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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
GALNS
Variant:
p.G155S
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GALNS
NM_001323543.2:p.G155S
hg38:chr16:88826823 C>T
Frequencies & domains
Associated Papers
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.
Caciotti A et al.
Bmc Medical Genetics,
2018
30305043 (PubMed
)
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