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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
IGFALS
Variant:
p.Q245delFs
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IGFALS
NM_004970.3:p.Q245delFs
hg38:chr16:1791683 CTG>C
Frequencies & domains
Associated Papers
Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.
Chen X et al.
Bmc Neurology,
2020
31900114 (PubMed
)
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