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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
KIF21B
Variant:
p.D680H
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KIF21B
NM_001252102.2:p.D680H
hg38:chr1:200998423 C>G
Frequencies & domains
Associated Papers
Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.
Shakya S et al.
Clinical Genetics,
2019
31429931 (PubMed
)
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