Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.

Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.

Significant number out of 2.2 billion vision impairments in the world can be attributed to genetics. The current study is aimed to decipher the genetic basis of Leber congenital Amaurosis (LCA), Anterior Segment dysgenesis (ASD), and Retinitis Pigmentosa (RP), segregating in four large consanguineou...

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Bibliographic Details
Main Authors: Muhammad Rashid, Muhammad Qasim, Rafaqat Ishaq, Shazia Anwer Bukhari, Zureesha Sajid, Usman Ali Ashfaq, Asma Haque, Zubair M Ahmed
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0239748

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https://doi.org/10.1371/journal.pone.0239748

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