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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARPC1B

Variant:p.W131Splc

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ARPC1B

NM_005720.4:p.W131Splc

hg38:chr7:99388262 G>C

Associated Papers

An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records.

Rustamov J et al.

Scientific Reports, 2024

39277702 (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."