Varaico: Literature-Extracted Genetic Variants

Gene:ATOH7
Variant:p.A59V
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ATOH7

NM_145178.4:p.A59V

Associated Papers

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

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

Atac D et al.

Human Molecular Genetics, 2020

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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."