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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC12A3

Variant:p.A391_I393insFs

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SLC12A3

NM_001126108.2:p.A391_I393insFs

hg38:chr16:56878151 A>AGCCACCAT

Associated Papers

Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review.

Qin YZ et al.

World Journal of Clinical Cases, 2022

36158002 (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."