Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.P618insFs
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SCNN1B

NM_000336.3:p.P618insFs

Associated Papers

Liddle syndrome with a SCNN1B mutation: a case report and systematic review.

Tang Q et al.

Bmc Nephrology, 2025

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

Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.

Bao M et al.

Journal of Medical Genetics, 2020

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

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

Liddle syndrome: clinical and genetic profiles.

Cui Y et al.

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

Prevalence of Liddle Syndrome Among Young Hypertension Patients of Undetermined Cause in a Chinese Population.

Wang LP et al.

Journal of Clinical Hypertension (greenwich, Conn.), 2015

A novel frameshift mutation of epithelial sodium channel β-subunit leads to Liddle syndrome in an isolated case.

Yang KQ et al.

Clinical Endocrinology, 2015

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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."