Varaico: Literature-Extracted Genetic Variants

Gene:FYCO1
Variant:p.R1224*
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FYCO1

NM_024513.4:p.R1224*

Associated Papers

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

Ullah MI et al.

Life (basel, Switzerland), 2023

Two New Variants in FYCO1 Are Responsible for Autosomal Recessive Congenital Cataract in Iranian Population.

Shirzadeh E et al.

Cell Journal, 2022

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

Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene.

Barashkov NA et al.

European Journal of Human Genetics : Ejhg, 2021

Mutations in FYCO1 identified in families with congenital cataracts.

Iqbal H et al.

Molecular Vision, 2020

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

Gillespie RL et al.

Ophthalmology, 2014

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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."