Varaico: Literature-Extracted Genetic Variants

Gene:HOMER2
Variant:p.P63L
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HOMER2

NM_004839.4:p.P63L

Associated Papers

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss.

Peng LT et al.

Journal of Clinical Laboratory Analysis, 2026

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

Han E et al.

Journal of Molecular Medicine (berlin, Germany), 2025

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

Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth.

Noorian S et al.

Journal of Pediatric Genetics, 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."