Varaico: Literature-Extracted Genetic Variants

Gene:GAS1
Variant:p.T200R
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GAS1

NM_002048.3:p.T200R

Associated Papers

Hedgehog receptor function during craniofacial development.

Xavier GM et al.

Developmental Biology, 2016

Solution structure and biophysical characterization of the multifaceted signalling effector protein growth arrest specific-1.

Rosti K et al.

Bmc Biochemistry, 2015

Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.

Pineda-Alvarez DE et al.

Human Genetics, 2012

Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients.

Ribeiro LA et al.

American Journal of Medical Genetics. Part A, 2010

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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."