Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes

Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2025-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12310046/?tool=EBI
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