Varaico: Literature-Extracted Genetic Variants

Gene:TRPM6
Variant:p.Y474C
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TRPM6

NM_001177311.2:p.Y474C

Associated Papers

Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.

Jung J et al.

Clinical Genetics, 2023

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.

Jung J et al.

Bmc Medical Genomics, 2021

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Seo GH et al.

Clinical Genetics, 2020

32901917 (PubMed )
Supplement: CGE-98-562-s003.xlsx › Supplementary_2
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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."