Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis
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J. Vincent | Muzammil Ahmad Khan | S. Abbasi | M. Muzammal | R. Harripaul | Abdul Haleem Shah | Muhammad Zubair | Hadia Gul | Muhammad Faheem | Saadullah Khan