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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
TAF4
Variant:
p.Q450*
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TAF4
NM_003185.4:p.Q450*
hg38:chr20:62064463 G>A
Frequencies & domains
Associated Papers
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Janssen BDE et al.
Human Mutation,
2022
35904126 (PubMed
)
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