Varaico: Literature-Extracted Genetic Variants

Gene:GAS1
Variant:p.D288G
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GAS1

NM_002048.3:p.D288G

Associated Papers

Gas1 Regulates Patterning of the Murine and Human Dentitions through Sonic Hedgehog.

Seppala M et al.

Journal of Dental Research, 2022

34796774 (PubMed )
Supplement: sj-pdf-1-jdr-10.1177_00220345211049403.pdf

Structural basis for catalyzed assembly of the Sonic hedgehog-Patched1 signaling complex.

Huang P et al.

Developmental Cell, 2022

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.

Mouden C et al.

Clinical Genetics, 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."