Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1B
Variant:p.P618R
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SCNN1B

NM_000336.3:p.P618R

Associated Papers

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

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

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

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y et al.

Scientific Reports, 2018

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

Tetti M et al.

International Journal of Molecular Sciences, 2018

Liddle syndrome in a Turkish family with heterogeneous phenotypes.

Büyükkaragöz B et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2016

Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?

Uyar B et al.

Molecular Biosystems, 2014

25057855 (PubMed )
Supplement: MB-010-C4mb00290c-s003.zip › Supplementary_file_22.xlsx › OMIM
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