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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
L1CAM
Variant:
p.S594fs
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L1CAM
NM_001278116.2:p.S594fs
hg38:chrX:153868044 A>AN
Frequencies & domains
Associated Papers
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Weller S et al.
Human Mutation,
2001
11438988 (PubMed
)
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