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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPA6

Variant:p.N271S

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CPA6

NM_020361.5:p.N271S

hg38:chr8:67483794 T>C

Associated Papers

Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy.

Sapio MR et al.

Plos One, 2015

25875328 (PubMed )

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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."