Varaico: Literature-Extracted Genetic Variants

Gene:MEGF8
Variant:p.G199R
Back to variants list

MEGF8

NM_001271938.2:p.G199R

Associated Papers

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.

Watts LM et al.

European Journal of Human Genetics : Ejhg, 2024

38760421 (PubMed )
Supplement: 41431_2024_1624_MOESM3_ESM.xlsx › Sheet1

Genetic basis of human left-right asymmetry disorders.

Deng H et al.

Expert Reviews in Molecular Medicine, 2015

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

Twigg SR et al.

American Journal of Human Genetics, 2012

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."