Varaico: Literature-Extracted Genetic Variants

Gene:TOPORS
Variant:p.R786Q
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TOPORS

NM_005802.5:p.R786Q

Associated Papers

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.

Watkins WS et al.

Nature Communications, 2019

31624253 (PubMed )
Supplement: 41467_2019_12582_MOESM3_ESM.xlsx › SuppData2.Damaged_genes

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Watson CM et al.

Plos One, 2014

25133751 (PubMed )
Supplement: pone.0104281.s001.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."