Varaico: Literature-Extracted Genetic Variants

Gene:DVL3
Variant:p.S583delFs
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DVL3

NM_004423.4:p.S583delFs

Associated Papers

Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics.

Zhang C et al.

Biorxiv : the Preprint Server for Biology, 2025

Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation.

Danyel M et al.

American Journal of Medical Genetics. Part A, 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

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