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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
MTPAP
Variant:
p.S172*
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MTPAP
NM_018109.4:p.S172*
hg38:chr10:30340266 G>C
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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