Varaico: Literature-Extracted Genetic Variants

Gene:HPCA
Variant:p.E66K
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HPCA

NM_002143.3:p.E66K

Associated Papers

Mutations in HPCA cause autosomal-recessive primary isolated dystonia.

Charlesworth G et al.

American Journal of Human Genetics, 2015

25799108 (PubMed )
Supplement: mmc1.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."