Varaico: Literature-Extracted Genetic Variants

Gene:HOMER2
Variant:p.S196T
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HOMER2

NM_004839.4:p.S196T

Associated Papers

Impact of HOMER2 frameshift extension variant on auditory function and development.

Han E et al.

Journal of Molecular Medicine (berlin, Germany), 2025

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.

Vaché C et al.

European Journal of Human Genetics : Ejhg, 2023

A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family.

Lachgar M et al.

Genes, 2021

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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."