Varaico: Literature-Extracted Genetic Variants

Gene:ABCC9
Variant:p.A1064P
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ABCC9

NM_020297.4:p.A1064P

Associated Papers

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.

Kortüm F et al.

European Journal of Medical Genetics, 2020

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Cheema H et al.

Npj Genomic Medicine, 2020

33083013 (PubMed )
Supplement: 41525_2020_150_MOESM1_ESM.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."