Varaico: Literature-Extracted Genetic Variants

Gene:FYCO1
Variant:p.Q1315Splc
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FYCO1

NM_024513.4:p.Q1315Splc

Associated Papers

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

Shirzadeh E et al.

Cell Journal, 2022

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

Aprahamian R et al.

Ophthalmic Genetics, 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."