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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
GLI2
Variant:
p.T172S
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GLI2
NM_001374353.1:p.T172S
hg38:chr2:120955302 C>G
Frequencies & domains
Associated Papers
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
Kalff-Suske M et al.
Human Molecular Genetics,
1999
10441342 (PubMed
)
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