Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.N109Y
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SOX10

NM_006941.4:p.N109Y

Associated Papers

Genomic insights into the demographic history and local adaptation of wild boars across Eurasia.

Wang Z et al.

Cell Genomics, 2025

40712570 (PubMed )
Supplement: mmc4.xlsx › Table_S7

Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.

Ma P et al.

Molecular Genetics & Genomic Medicine, 2024

A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child.

Li Z et al.

Molecular Biology Reports, 2024

Sox10 Gene Is Required for the Survival of Saccular and Utricular Hair Cells in a Porcine Model.

Qi JC et al.

Molecular Neurobiology, 2022

Phenotypic similarities in pigs with SOX10c.321dupC and SOX10c.325A>T mutations implied the correlation of SOX10 haploinsufficiency with Waardenburg syndrome.

Lin T et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2020

Pilot study of large-scale production of mutant pigs by ENU mutagenesis.

Hai T et al.

Elife, 2017

Efficient Generation of Gene-Modified Pigs Harboring Precise Orthologous Human Mutation via CRISPR/Cas9-Induced Homology-Directed Repair in Zygotes.

Zhou X et al.

Human Mutation, 2016

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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."