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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
FRMD1
Variant:
p.M1K
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FRMD1
NM_024919.6:p.M1K
hg38:chr6:168079093 A>T
Frequencies & domains
Associated Papers
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.
Chia PH et al.
Elife,
2018
29784083 (PubMed
)
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