Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.V978fs
Back to variants list

ASXL1

NM_015338.6:p.V978fs

Associated Papers

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.

Carlston CM et al.

Human Mutation, 2017

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."