Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.W12C
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ABCA4

NM_000350.3:p.W12C

Associated Papers

Distinct genomic profiles of gestational choriocarcinoma, a unique cancer of pregnant tissues.

Jung SH et al.

Experimental & Molecular Medicine, 2020

33319857 (PubMed )
Supplement: 12276_2020_544_MOESM1_ESM.pdf

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s004.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."