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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PC

Variant:p.R205S

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PC

NM_001040716.2:p.R205S

hg38:chr11:66871070 C>A

Associated Papers

Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency.

Ostergaard E et al.

Jimd Reports, 2013

23430542 (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."