Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS2
Variant:p.P224fs
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ADAMTS2

NM_014244.5:p.P224fs

Associated Papers

Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation.

Rim JH et al.

Biomolecules, 2020

The Ehlers-Danlos syndromes, rare types.

Brady AF et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.

Van Damme T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Dermal pathology in a Catahoula Leopard dog with Dermasparaxis Ehlers Danlos syndrome caused by a homozygous ADAMTS2 missense variant.

Jaffey JA et al.

Topics in Companion Animal Medicine, 0

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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."