Varaico: Literature-Extracted Genetic Variants

Gene:ABCA2
Variant:p.R80Q
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ABCA2

NM_001606.5:p.R80Q

Associated Papers

TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.

da Silva EM et al.

Npj Breast Cancer, 2021

33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.pdf

Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).

Friedman D et al.

Npj Genomic Medicine, 2018

29619247 (PubMed )
Supplement: 41525_2018_48_MOESM3_ESM.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."