Varaico: Literature-Extracted Genetic Variants

Gene:FYCO1
Variant:p.Q789*
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FYCO1

NM_024513.4:p.Q789*

Associated Papers

Identification and Functional Characterization of Mutation in FYCO1 in Families with Congenital Cataract.

Ullah MI et al.

Life (basel, Switzerland), 2023

Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.

Saleem RS et al.

Molecular Genetics & Genomic Medicine, 2022

Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy.

Aprahamian R et al.

Ophthalmic Genetics, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."