Varaico: Literature-Extracted Genetic Variants

Gene:SCNN1G
Variant:p.K106Splc
Back to variants list

SCNN1G

NM_001039.4:p.K106Splc

Associated Papers

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index

Clinical characteristics and treatment requirements of children with autosomal recessive pseudohypoaldosteronism.

Bandhakavi M et al.

European Journal of Endocrinology, 2021

Pseudohypoaldosteronism type 1 and Liddle's syndrome mutations that affect the single-channel properties of the epithelial Na+ channel.

Boiko N et al.

Physiological Reports, 2015

Aldosterone resistance: structural and functional considerations and new perspectives.

Zennaro MC et al.

Molecular and Cellular Endocrinology, 2012

Biased exon/intron distribution of cryptic and de novo 3' splice sites.

Královicová J et al.

Nucleic Acids Research, 2005

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."