Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.N619fs
Back to variants list

SCNN1B

NM_000336.3:p.N619fs

Associated Papers

Novel frameshift variant in the β subunit of epithelial sodium channels uncovers Liddle syndrome in a young patient with metabolic syndrome: a case report with review of literature.

Li A et al.

Endocrine Journal, 2026

Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension.

Fan P et al.

American Journal of Hypertension, 2020

32161960 (PubMed )
Supplement: hpaa037_suppl_supplementary_table_s2.doc

Liddle Syndrome: Review of the Literature and Description of a New Case.

Tetti M et al.

International Journal of Molecular Sciences, 2018

Liddle syndrome: clinical and genetic profiles.

Cui Y et al.

Journal of Clinical Hypertension (greenwich, Conn.), 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."