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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ARHGEF9
Variant:
p.W300*
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ARHGEF9
NM_015185.3:p.W300*
hg38:chrX:63674062 C>T
Frequencies & domains
Associated Papers
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.
Ghesh L et al.
Human Mutation,
2021
33600053 (PubMed
)
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