Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.Q222*
Back to variants list

SMC1A

NM_006306.4:p.Q222*

Associated Papers

Highlighting the different facets of SMC1A truncating variants: Two patients with novel SMC1A pathogenic variants.

Amllal N et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

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."