Varaico: Literature-Extracted Genetic Variants

Gene:EVC
Variant:p.L257Q
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EVC

NM_153717.3:p.L257Q

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

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.

Ruiz-Perez VL et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2009

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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."