Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.L1005V
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ABCA4

NM_000350.3:p.L1005V

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

Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors.

Chmielecki J et al.

Nature Genetics, 2013

23313954 (PubMed )
Supplement: NIHMS474988-supplement-1.pdf
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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."