Varaico: Literature-Extracted Genetic Variants

Gene:EME1
Variant:p.G212R
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EME1

NM_152463.4:p.G212R

Associated Papers

Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.

Nishioka M et al.

Nature Communications, 2021

34145229 (PubMed )
Supplement: 41467_2021_23453_MOESM4_ESM.xlsx › Supplementary_Data_1

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

Qi H et al.

Plos Genetics, 2018

30532227 (PubMed )
Supplement: pgen.1007822.s011.xlsx › CodingDNM

Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

Yu L et al.

Journal of Medical Genetics, 2014

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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."