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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AASDH

Variant:p.K179R

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AASDH

NM_181806.4:p.K179R

hg38:chr4:56378280 T>C

Associated Papers

A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance.

Caligo MA et al.

Human Mutation, 2009

18680205 (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."