Varaico: Literature-Extracted Genetic Variants

Gene:MYH14
Variant:p.A181T
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MYH14

NM_001145809.2:p.A181T

Associated Papers

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

Carli D et al.

Jama Network Open, 2025

41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3

Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility.

Zhang X et al.

Pediatric Rheumatology Online Journal, 2023

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.

Hiramatsu K et al.

Genes, 2021

A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.

Wang M et al.

Bmc Medical Genetics, 2020

Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating.

Qing J et al.

Plos One, 2014

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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."