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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PURA

Variant:p.K82E

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PURA

NM_005859.5:p.K82E

hg38:chr5:140114425 A>G

Associated Papers

Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum.

Yates TM et al.

Clinical Genetics, 2019

30353918 (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."