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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLA1

Variant:p.C147S

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POLA1

NM_001330360.2:p.C147S

hg38:chrX:24714646 T>A

Associated Papers

Uncoupling of initiation factor eIF5B/IF2 GTPase and translational activities by mutations that lower ribosome affinity.

Shin BS et al.

Cell, 2002

12507428 (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."