Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.E179*
Back to variants list

SMC1A

NM_006306.4:p.E179*

Associated Papers

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

Mannini L et al.

Human Mutation, 2013

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

Kuzniacka A et al.

Journal of Applied Genetics, 2013

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."