Varaico: Literature-Extracted Genetic Variants

Gene:ATOH7
Variant:p.R42P
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ATOH7

NM_145178.4:p.R42P

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

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

The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families.

Keser V et al.

Investigative Ophthalmology & Visual Science, 2017

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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."