Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1A
Variant:p.V540M
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SCNN1A

NM_001159576.2:p.V540M

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet

Kidney ion handling genes and their interaction in blood pressure control.

An C et al.

Bioscience Reports, 2022

Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study.

Muin DA et al.

Scientific Reports, 2021

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