Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes
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| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2025-01-01
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| Series: | PLoS ONE |
| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12310046/?tool=EBI |
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| author | Jahangir Khan Tareen Hamid Khan Shamsul Ghani Saeed Khan Bakhtawar Khan Yurong Wu Muhammad Ajmal Khan Syed Shahab Ud Din Shah Abrar Hussain Mubin Mustafa Kiyani Shahid Bashir Atta Ur Rehman Muhammad Imran Shabbir Hong-Tao Li |
| author_facet | Jahangir Khan Tareen Hamid Khan Shamsul Ghani Saeed Khan Bakhtawar Khan Yurong Wu Muhammad Ajmal Khan Syed Shahab Ud Din Shah Abrar Hussain Mubin Mustafa Kiyani Shahid Bashir Atta Ur Rehman Muhammad Imran Shabbir Hong-Tao Li |
| author_sort | Jahangir Khan Tareen |
| collection | DOAJ |
| format | Article |
| id | doaj-art-44fb713e8fc443cfa9f6dfa818d87c91 |
| institution | Kabale University |
| issn | 1932-6203 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj-art-44fb713e8fc443cfa9f6dfa818d87c912025-08-20T03:34:16ZengPublic Library of Science (PLoS)PLoS ONE1932-62032025-01-01207Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypesJahangir Khan TareenHamid KhanShamsul GhaniSaeed KhanBakhtawar KhanYurong WuMuhammad Ajmal KhanSyed Shahab Ud Din ShahAbrar HussainMubin Mustafa KiyaniShahid BashirAtta Ur RehmanMuhammad Imran ShabbirHong-Tao Lihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC12310046/?tool=EBI |
| spellingShingle | Jahangir Khan Tareen Hamid Khan Shamsul Ghani Saeed Khan Bakhtawar Khan Yurong Wu Muhammad Ajmal Khan Syed Shahab Ud Din Shah Abrar Hussain Mubin Mustafa Kiyani Shahid Bashir Atta Ur Rehman Muhammad Imran Shabbir Hong-Tao Li Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes PLoS ONE |
| title | Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes |
| title_full | Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes |
| title_fullStr | Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes |
| title_full_unstemmed | Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes |
| title_short | Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes |
| title_sort | whole exome sequencing reveals pathogenic variants in cnga3 cacna1f and rpgrip1 in consanguineous pakistani families with diverse retinal phenotypes |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12310046/?tool=EBI |
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