Varaico: Literature-Extracted Genetic Variants

Gene:FYCO1
Variant:p.Q736*
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FYCO1

NM_024513.4:p.Q736*

Associated Papers

Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing.

Jarral A et al.

Molecular Genetics & Genomic Medicine, 2025

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

The role of FYCO1-dependent autophagy in lens fiber cell differentiation.

Khan SY et al.

Autophagy, 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

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.

Chen J et al.

Investigative Ophthalmology & Visual Science, 2017

Mutations in FYCO1 cause autosomal-recessive congenital cataracts.

Chen J et al.

American Journal of Human Genetics, 2011

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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."