Varaico: Literature-Extracted Genetic Variants

Gene:GAS1
Variant:p.G259E
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GAS1

NM_002048.3:p.G259E

Associated Papers

Hedgehog receptor function during craniofacial development.

Xavier GM et al.

Developmental Biology, 2016

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."