Varaico: Literature-Extracted Genetic Variants

Gene:ATOH7
Variant:p.E49V
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ATOH7

NM_145178.4:p.E49V

Associated Papers

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

Ullah MI et al.

International Journal of Ophthalmology, 2025

OCULAR FEATURES ASSOCIATED WITH MUTATIONS IN ATOH7 GENE OVERLAP THOSE WITH FAMILIAL EXUDATIVE VITREORETINOPATHY.

Naruse S et al.

Retinal Cases & Brief Reports, 2023

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM

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

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.

Plaisancié J et al.

Human Genetics, 2019

Mutations in ATOH7 gene in patients with nonsyndromic congenital retinal nonattachment and familial exudative vitreoretinopathy.

Kondo H et al.

Ophthalmic Genetics, 2016

Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia.

Lim SH et al.

Ophthalmic Genetics, 2014

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

Prasov L et al.

Human Molecular Genetics, 2012

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.

Khan K et al.

Human Molecular Genetics, 2012

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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."