Varaico: Literature-Extracted Genetic Variants

Gene:MYO1A
Variant:p.S910P
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MYO1A

NM_005379.4:p.S910P

Associated Papers

Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss.

Talebi F et al.

Cell Journal, 2018

A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness.

Patton J et al.

European Journal of Human Genetics : Ejhg, 2016

Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.

Eisenberger T et al.

Human Mutation, 2014

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

Human deafness mutation E385D disrupts the mechanochemical coupling and subcellular targeting of myosin-1a.

Yengo CM et al.

Biophysical Journal, 2008

Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.

Donaudy F et al.

American Journal of Human Genetics, 2003

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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."