Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCN1

Variant:p.L46L

Back to variants list

CLCN1

NM_000083.3:p.L46L

hg38:chr7:143316350 C>T

Associated Papers

Clinical and genetic characteristics of myotonia congenita in Chinese population.

He Y et al.

Channels (austin, Tex.), 2024

38720415 (PubMed )

Supplement: KCHL_A_2349823_SM7931.docx

Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people.

Meng YX et al.

Medicine, 2022

35866763 (PubMed )

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."