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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRPM6

Variant:p.C378_I379Splc

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TRPM6

NM_017662.5:p.C378_I379Splc

hg38:chr9:74820303 C>A

Associated Papers

A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review.

Lü Q et al.

Journal of Endocrinological Investigation, 2016

26260218 (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."