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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HLCS

Variant:p.A308_P309insFs

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HLCS

NM_001352514.2:p.A308_P309insFs

hg38:chr21:36936962 T>TA

Associated Papers

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

Yang X et al.

Molecular Genetics and Metabolism, 2004

15059621 (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."