Varaico: Literature-Extracted Genetic Variants

Gene:SLC47A1
Variant:p.Y566C
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SLC47A1

NM_018242.3:p.Y566C

Associated Papers

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

Eisenberger T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29309402 (PubMed )
Supplement: gim2017155x6.pdf

Lack of genomic diversity in the SLC47A1 gene within the indigenous Xhosa population.

Jacobs C et al.

Drug Metabolism and Personalized Therapy, 2016

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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."