Varaico: Literature-Extracted Genetic Variants

Gene:ELMO2
Variant:p.N332S
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ELMO2

NM_133171.5:p.N332S

Associated Papers

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA et al.

Nature Genetics, 2017

28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease

High throughput in vivo functional validation of candidate congenital heart disease genes in Drosophila.

Zhu JY et al.

Elife, 2017

28084990 (PubMed )
Supplement: elife-22617-supp1.xlsx › Sheet1

De novo mutations in histone-modifying genes in congenital heart disease.

Zaidi S et al.

Nature, 2013

23665959 (PubMed )
Supplement: NIHMS483564-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."