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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCCA

Variant:p.E397_C398delFs

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PCCA

NM_000282.4:p.E397_C398delFs

hg38:chr13:100301581 TTGAA>T

Associated Papers

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.

Gupta D et al.

Genetic Testing and Molecular Biomarkers, 2016

27227689 (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."