Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.W161*
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SLC12A3

NM_001126108.2:p.W161*

Associated Papers

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).

Pinto E Vairo F et al.

Journal of Translational Medicine, 2023

37353797 (PubMed )
Supplement: 12967_2023_4183_MOESM3_ESM.xlsx › Table_S3

Insurance denials and diagnostic rates in a pediatric genomic research cohort.

Zion TN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Gitelman syndrome.

Roser M et al.

Hypertension (dallas, Tex. : 1979), 2009

19349556 (PubMed )
Supplement: 127993-online_supplement.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."