Varaico: Literature-Extracted Genetic Variants

Gene:PCSK1N
Variant:p.R165Q
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PCSK1N

NM_013271.5:p.R165Q

Associated Papers

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.

Pérez-Cerdá C et al.

Biochimica Et Biophysica Acta, 2003

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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."