Varaico: Literature-Extracted Genetic Variants

Gene:ATOH7
Variant:p.R65G
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ATOH7

NM_145178.4:p.R65G

Associated Papers

Novel ATOH7 mutation and structural characterization in families with optic nerve hypoplasia.

Ullah MI et al.

International Journal of Ophthalmology, 2025

Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7.

Atac D et al.

International Journal of Molecular Sciences, 2022

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.

Atac D et al.

Human Molecular Genetics, 2020

A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Chen YC et al.

Plos Computational Biology, 2014

25188385 (PubMed )
Supplement: pcbi.1003825.s014.xlsx › TableS12

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.

Prasov L et al.

Human Molecular Genetics, 2012

Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.

Macgregor S et al.

Human Molecular Genetics, 2010

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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."