Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS19
Variant:p.R662*
Back to variants list

ADAMTS19

NM_133638.6:p.R662*

Associated Papers

ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.

Massadeh S et al.

Clinical Genetics, 2020

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

Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.

Wünnemann F et al.

Nature Genetics, 2020

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › SK-N-DZ
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."