P730: Genetic basis of dysferlinopathy: A comprehensive analysis of sequence and copy number variants from a large cohort of 686 patients
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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425011380 |
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| author | Babi Ramesh Reddy Nallamilli Mary Colasanto Sreyanth Chandra Parupalli Ruby Liu Lakshmanan Jagannathan Arul Joseph Duraisamy Vinish Ramachander Supan Dhillon Madhuri Hegde |
| author_facet | Babi Ramesh Reddy Nallamilli Mary Colasanto Sreyanth Chandra Parupalli Ruby Liu Lakshmanan Jagannathan Arul Joseph Duraisamy Vinish Ramachander Supan Dhillon Madhuri Hegde |
| author_sort | Babi Ramesh Reddy Nallamilli |
| collection | DOAJ |
| format | Article |
| id | doaj-art-b37aefd6a6a54061832f9ddb7b31827e |
| 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-b37aefd6a6a54061832f9ddb7b31827e2025-08-20T02:29:35ZengElsevierGenetics in Medicine Open2949-77442025-01-01310309910.1016/j.gimo.2025.103099P730: Genetic basis of dysferlinopathy: A comprehensive analysis of sequence and copy number variants from a large cohort of 686 patientsBabi Ramesh Reddy Nallamilli0Mary Colasanto1Sreyanth Chandra Parupalli2Ruby Liu3Lakshmanan Jagannathan4Arul Joseph Duraisamy5Vinish Ramachander6Supan Dhillon7Madhuri Hegde8Revvity OmicsRevvity OmicsForsyth Central High SchoolRevvity OmicsRevvity OmicsRevvity OmicsRevvity OmicsRevvity OmicsRevvity Omicshttp://www.sciencedirect.com/science/article/pii/S2949774425011380 |
| spellingShingle | Babi Ramesh Reddy Nallamilli Mary Colasanto Sreyanth Chandra Parupalli Ruby Liu Lakshmanan Jagannathan Arul Joseph Duraisamy Vinish Ramachander Supan Dhillon Madhuri Hegde P730: Genetic basis of dysferlinopathy: A comprehensive analysis of sequence and copy number variants from a large cohort of 686 patients Genetics in Medicine Open |
| title | P730: Genetic basis of dysferlinopathy: A comprehensive analysis of sequence and copy number variants from a large cohort of 686 patients |
| title_full | P730: Genetic basis of dysferlinopathy: A comprehensive analysis of sequence and copy number variants from a large cohort of 686 patients |
| title_fullStr | P730: Genetic basis of dysferlinopathy: A comprehensive analysis of sequence and copy number variants from a large cohort of 686 patients |
| title_full_unstemmed | P730: Genetic basis of dysferlinopathy: A comprehensive analysis of sequence and copy number variants from a large cohort of 686 patients |
| title_short | P730: Genetic basis of dysferlinopathy: A comprehensive analysis of sequence and copy number variants from a large cohort of 686 patients |
| title_sort | p730 genetic basis of dysferlinopathy a comprehensive analysis of sequence and copy number variants from a large cohort of 686 patients |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425011380 |
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