Varaico: Literature-Extracted Genetic Variants

Gene:SMIM3
Variant:p.R51W
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SMIM3

NM_032947.5:p.R51W

Associated Papers

Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk.

Coassin S et al.

Circulation. Genomic and Precision Medicine, 2022

35133173 (PubMed )
Supplement: hcg-15-e003489-s001.pdf

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › HR-deficient__BRCA1_mutant

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1696.600
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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."