P483: Novel biallelic LIG3 mutations causing lethal phenotype of mtDNA depletion syndrome 20: A case solved by multi-omics research re-analysis
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
|
| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425013895 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850140735349719040 |
|---|---|
| author | Erica Schindewolf Gonench Kilich Kathleen Sullivan Rebecca Ganetzky Kelly Hassey Kelly Mauer Christopher Breen Tanaya Jadhav Adeline Vanderver Cara Skraban Ramakrishnan Rajagopalan |
| author_facet | Erica Schindewolf Gonench Kilich Kathleen Sullivan Rebecca Ganetzky Kelly Hassey Kelly Mauer Christopher Breen Tanaya Jadhav Adeline Vanderver Cara Skraban Ramakrishnan Rajagopalan |
| author_sort | Erica Schindewolf |
| collection | DOAJ |
| format | Article |
| id | doaj-art-810fb876bafb4871bdd94ca5791d1a62 |
| institution | OA Journals |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-810fb876bafb4871bdd94ca5791d1a622025-08-20T02:29:42ZengElsevierGenetics in Medicine Open2949-77442025-01-01310335010.1016/j.gimo.2025.103350P483: Novel biallelic LIG3 mutations causing lethal phenotype of mtDNA depletion syndrome 20: A case solved by multi-omics research re-analysisErica Schindewolf0Gonench Kilich1Kathleen Sullivan2Rebecca Ganetzky3Kelly Hassey4Kelly Mauer5Christopher Breen6Tanaya Jadhav7Adeline Vanderver8Cara Skraban9Ramakrishnan Rajagopalan10CHOPCHOPCHOPCHOPCHOPCHOPCHOPCHOPCHOPCHOPCHOPhttp://www.sciencedirect.com/science/article/pii/S2949774425013895 |
| spellingShingle | Erica Schindewolf Gonench Kilich Kathleen Sullivan Rebecca Ganetzky Kelly Hassey Kelly Mauer Christopher Breen Tanaya Jadhav Adeline Vanderver Cara Skraban Ramakrishnan Rajagopalan P483: Novel biallelic LIG3 mutations causing lethal phenotype of mtDNA depletion syndrome 20: A case solved by multi-omics research re-analysis Genetics in Medicine Open |
| title | P483: Novel biallelic LIG3 mutations causing lethal phenotype of mtDNA depletion syndrome 20: A case solved by multi-omics research re-analysis |
| title_full | P483: Novel biallelic LIG3 mutations causing lethal phenotype of mtDNA depletion syndrome 20: A case solved by multi-omics research re-analysis |
| title_fullStr | P483: Novel biallelic LIG3 mutations causing lethal phenotype of mtDNA depletion syndrome 20: A case solved by multi-omics research re-analysis |
| title_full_unstemmed | P483: Novel biallelic LIG3 mutations causing lethal phenotype of mtDNA depletion syndrome 20: A case solved by multi-omics research re-analysis |
| title_short | P483: Novel biallelic LIG3 mutations causing lethal phenotype of mtDNA depletion syndrome 20: A case solved by multi-omics research re-analysis |
| title_sort | p483 novel biallelic lig3 mutations causing lethal phenotype of mtdna depletion syndrome 20 a case solved by multi omics research re analysis |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425013895 |
| work_keys_str_mv | AT ericaschindewolf p483novelbialleliclig3mutationscausinglethalphenotypeofmtdnadepletionsyndrome20acasesolvedbymultiomicsresearchreanalysis AT gonenchkilich p483novelbialleliclig3mutationscausinglethalphenotypeofmtdnadepletionsyndrome20acasesolvedbymultiomicsresearchreanalysis AT kathleensullivan p483novelbialleliclig3mutationscausinglethalphenotypeofmtdnadepletionsyndrome20acasesolvedbymultiomicsresearchreanalysis AT rebeccaganetzky p483novelbialleliclig3mutationscausinglethalphenotypeofmtdnadepletionsyndrome20acasesolvedbymultiomicsresearchreanalysis AT kellyhassey p483novelbialleliclig3mutationscausinglethalphenotypeofmtdnadepletionsyndrome20acasesolvedbymultiomicsresearchreanalysis AT kellymauer p483novelbialleliclig3mutationscausinglethalphenotypeofmtdnadepletionsyndrome20acasesolvedbymultiomicsresearchreanalysis AT christopherbreen p483novelbialleliclig3mutationscausinglethalphenotypeofmtdnadepletionsyndrome20acasesolvedbymultiomicsresearchreanalysis AT tanayajadhav p483novelbialleliclig3mutationscausinglethalphenotypeofmtdnadepletionsyndrome20acasesolvedbymultiomicsresearchreanalysis AT adelinevanderver p483novelbialleliclig3mutationscausinglethalphenotypeofmtdnadepletionsyndrome20acasesolvedbymultiomicsresearchreanalysis AT caraskraban p483novelbialleliclig3mutationscausinglethalphenotypeofmtdnadepletionsyndrome20acasesolvedbymultiomicsresearchreanalysis AT ramakrishnanrajagopalan p483novelbialleliclig3mutationscausinglethalphenotypeofmtdnadepletionsyndrome20acasesolvedbymultiomicsresearchreanalysis |