Varaico: Literature-Extracted Genetic Variants

Gene:RPP38
Variant:p.T47M
Back to variants list

RPP38

NM_183005.5:p.T47M

Associated Papers

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF.

Khalil A et al.

Bmc Medical Genetics, 2020

31898538 (PubMed )
Supplement: 12881_2019_942_MOESM4_ESM.xls › suppTable3

Germline mutations causing familial lung cancer.

Tomoshige K et al.

Journal of Human Genetics, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."