Varaico: Literature-Extracted Genetic Variants

Gene:CPA6
Variant:p.R128*
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CPA6

NM_020361.5:p.R128*

Associated Papers

Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.

Khani M et al.

Journal of Neurology, 2021

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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."