Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.R799fs
Back to variants list

SMC1A

NM_006306.4:p.R799fs

Associated Papers

Linking Genotype to Clinical Features in SMC1A-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review.

Astorino MF et al.

Genes, 2025

Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.

Bozarth XL et al.

Genes, 2023

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."