Varaico: Literature-Extracted Genetic Variants

Gene:MEGF8
Variant:p.C193R
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MEGF8

NM_001271938.2:p.C193R

Associated Papers

Gene-teratogen interactions influence the penetrance of birth defects by altering Hedgehog signaling strength.

Kong JH et al.

Development (cambridge, England), 2021

A Membrane-Tethered Ubiquitination Pathway Regulates Hedgehog Signaling and Heart Development.

Kong JH et al.

Developmental Cell, 2020

Mouse Models of Syndromic Craniosynostosis.

Lee KKL et al.

Molecular Syndromology, 2019

The Drosophila homologue of MEGF8 is essential for early development.

Lloyd DL et al.

Scientific Reports, 2018

MEGF8 is a modifier of BMP signaling in trigeminal sensory neurons.

Engelhard C et al.

Elife, 2013

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

Twigg SR et al.

American Journal of Human Genetics, 2012

Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy.

Zhang Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

Spatial and temporal deletion reveals a latent effect of Megf8 on the left-right patterning and heart development.

Wang W et al.

Differentiation; Research in Biological Diversity, 0

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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."