Varaico: Literature-Extracted Genetic Variants

Gene:KCNMA1
Variant:p.L628L
Back to variants list

KCNMA1

NM_001161352.2:p.L628L

Associated Papers

Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.

Geraghty RM et al.

Journal of Rare Diseases (berlin, Germany), 2023

37288276 (PubMed )
Supplement: 44162_2023_12_MOESM1_ESM.pdf
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."