Varaico: Literature-Extracted Genetic Variants

Gene:VPS53
Variant:p.P36R
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VPS53

NM_001128159.3:p.P36R

Associated Papers

Mutations and altered expression of SERPINF1 in patients with familial otosclerosis.

Ziff JL et al.

Human Molecular Genetics, 2016

27056980 (PubMed )
Supplement: supp_ddw106_HMG-2016-D-00169_Ziff_Supplemental_Data.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."