Varaico: Literature-Extracted Genetic Variants

Gene:ADPRHL1
Variant:p.L372Q
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ADPRHL1

NM_001394807.1:p.L372Q

Associated Papers

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.

Pater JA et al.

Human Genetics, 2022

35278131 (PubMed )
Supplement: 439_2022_2444_MOESM1_ESM.pdf
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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."