Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS10
Variant:p.T397Splc
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ADAMTS10

NM_030957.4:p.T397Splc

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

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

Morales J et al.

American Journal of Human Genetics, 2009

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

Dagoneau N et al.

American Journal of Human Genetics, 2004

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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."