Varaico: Literature-Extracted Genetic Variants

Gene:MYO15A
Variant:p.L1894P
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MYO15A

NM_016239.4:p.L1894P

Associated Papers

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Liu S et al.

Genome Medicine, 2023

38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S9

Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.

Ma J et al.

Human Genomics, 2023

36597107 (PubMed )
Supplement: 40246_2022_449_MOESM3_ESM.xlsx › Sheet1

Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.

Xiang J et al.

Bmc Medical Genomics, 2022

35761346 (PubMed )
Supplement: 12920_2022_1293_MOESM3_ESM.xlsx › Table_S2

Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss.

Wang XH et al.

Neural Plasticity, 2021

Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.

Xie L et al.

Neural Plasticity, 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."