Varaico: Literature-Extracted Genetic Variants

Gene:EME1
Variant:p.G212R
Back to variants list

EME1

NM_152463.4:p.G212R

Associated Papers

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."