Varaico: Literature-Extracted Genetic Variants

Gene:DVL1
Variant:p.H502_P506delFs
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DVL1

NM_004421.3:p.H502_P506delFs

Associated Papers

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Mensah MA et al.

Nature, 2023

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

White JJ et al.

American Journal of Human Genetics, 2018

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

White JJ et al.

American Journal of Human Genetics, 2016

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

White J et al.

American Journal of Human Genetics, 2015

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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."