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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PQBP1
Variant:
p.P238_L239delFs
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PQBP1
NM_001032382.2:p.P238_L239delFs
hg38:chrX:48902998 CCCCT>C
Frequencies & domains
Associated Papers
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
de Brouwer AP et al.
Human Mutation,
2007
17221867 (PubMed
)
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