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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:USP42

Variant:p.P1190R

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USP42

NM_032172.3:p.P1190R

hg38:chr7:6155123 C>G

Associated Papers

A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young.

Graff SM et al.

Jci Insight, 2021

34032641 (PubMed )

Supplement: jciinsight-6-138057-s173.pdf

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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."