Varaico: Literature-Extracted Genetic Variants

Gene:FYCO1
Variant:p.Q270*
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FYCO1

NM_024513.4:p.Q270*

Associated Papers

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

Shirzadeh E et al.

Cell Journal, 2022

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

Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.

Li B et al.

Journal of Ophthalmology, 2020

32148946 (PubMed )
Supplement: 7054315.f1.pdf

Mutations in FYCO1 identified in families with congenital cataracts.

Iqbal H et al.

Molecular Vision, 2020

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

Li J et al.

Orphanet Journal of Rare Diseases, 2018

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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."