Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.C1201S
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MYO7A

NM_000260.4:p.C1201S

Associated Papers

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4

Clinical and genetic architecture of a large cohort with auditory neuropathy.

Wang H et al.

Human Genetics, 2024

38456936 (PubMed )
Supplement: 439_2024_2652_MOESM1_ESM.xlsx › Supplementary_Data_4

Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Florentine MM et al.

Human Genetics, 2022

34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants

Identification of heritable rare variants associated with early-stage lung adenocarcinoma risk.

Fu R et al.

Translational Lung Cancer Research, 2022

35529798 (PubMed )
Supplement: tlcr-11-04-509-supplementary.pdf

Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Chen TC et al.

Npj Genomic Medicine, 2021

33608557 (PubMed )
Supplement: 41525_2021_180_MOESM2_ESM.xlsx › ___1

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Azaiez H et al.

American Journal of Human Genetics, 2018

30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.

Chen S et al.

Genetic Testing and Molecular Biomarkers, 2016

Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.

Rong W et al.

Plos One, 2014

24831256 (PubMed )
Supplement: pone.0097808.s003.xlsx › HD69_HD70

An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis.

Yoshimura H et al.

International Journal of Pediatric Otorhinolaryngology, 2013

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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."