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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
TBXAS1
Variant:
p.R465Q
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TBXAS1
NM_001061.7:p.R465Q
hg38:chr7:140017700 G>A
Frequencies & domains
Associated Papers
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
Magen D et al.
Human Genetics,
2015
25560765 (PubMed
)
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