Varaico: Literature-Extracted Genetic Variants

Gene:ADAM10
Variant:p.P139S
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ADAM10

NM_001110.4:p.P139S

Associated Papers

Reticulate acropigmentation of Kitamura with a novel mutation in ADAM10.

Pan Y et al.

Clinical and Experimental Dermatology, 2019

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease.

Kono M et al.

Human Molecular Genetics, 2013

Computational analysis and molecular dynamics simulation of high-risk single nucleotide polymorphisms of the ADAM10 gene.

Namme JN et al.

Journal of Biomolecular Structure & Dynamics, 0

36995110 (PubMed )
Supplement: supplement_1.zip › suppl_data › Supplementary_file_1_423_nsSNPs_10_tools.xlsx › Sheet1
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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."