Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.P574delFs
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SCNN1B

NM_000336.3:p.P574delFs

Associated Papers

A frameshift mutation in the SCNN1B gene in a family with Liddle syndrome: A case report and systematic review.

Lu Y et al.

Molecular Medicine Reports, 2024

38099339 (PubMed )
Supplement: Supplementary_Data.pdf

Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension.

Pratamawati TM et al.

International Journal of Hypertension, 2023

A family with Liddle's syndrome caused by a new c.1721 deletion mutation in the epithelial sodium channel β-subunit.

Ding X et al.

Experimental and Therapeutic Medicine, 2019

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