Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP31
Variant:p.S688insFs
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ARHGAP31

NM_020754.4:p.S688insFs

Associated Papers

Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum.

Santaniello C et al.

Genes, 2024

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Meester JAN et al.

Human Mutation, 2018

Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.

Isrie M et al.

American Journal of Medical Genetics. Part A, 2014

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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."