Varaico: Literature-Extracted Genetic Variants

Gene:ADAM12
Variant:p.G48R
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ADAM12

NM_001288973.2:p.G48R

Associated Papers

Individualized Proteogenomics Reveals the Mutational Landscape of Melanoma Patients in Response to Immunotherapy.

Schmitt M et al.

Cancers, 2021

34771574 (PubMed )
Supplement: cancers-13-05411-s001.zip › cancers-1421686_Table_S4.xlsx › Sheet_1

Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population.

Tai Z et al.

Bmc Medical Genetics, 2017

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

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

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A0AD-01A.domain

Missense single nucleotide polymorphism of the ADAM12 gene is associated with radiographic knee osteoarthritis in middle-aged Estonian cohort.

Kerna I et al.

Osteoarthritis and Cartilage, 2009

Attempt to replicate published genetic associations in a large, well-defined osteoarthritis case-control population (the GOAL study).

Limer KL et al.

Osteoarthritis and Cartilage, 2009

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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."