Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B2
Variant:p.G339delins
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ATP2B2

NM_001001331.4:p.G339delins

Associated Papers

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

Smits JJ et al.

Human Genetics, 2019

30535804 (PubMed )
Supplement: 439_2018_1965_MOESM1_ESM.docx
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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."