Varaico: Literature-Extracted Genetic Variants

Gene:DVL1
Variant:p.Q541delFs
Back to variants list

DVL1

NM_001330311.2:p.Q541delFs

Associated Papers

A novel frameshift mutation of DVL1-induced Robinow syndrome: A case report and literature review.

Hu R et al.

Molecular Genetics & Genomic Medicine, 2022

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Zhang C et al.

Hgg Advances, 2022

35047859 (PubMed )
Supplement: mmc1.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."