Varaico: Literature-Extracted Genetic Variants

Gene:TMC2
Variant:p.A12Splc
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TMC2

NM_080751.3:p.A12Splc

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_MOESM2_ESM.xls › suppTbale1
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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."