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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
EXOC8
Variant:
p.E572*
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EXOC8
NM_175876.5:p.E572*
hg38:chr1:231336032 C>A
Frequencies & domains
Associated Papers
The exocyst complex in neurological disorders.
Halim DO et al.
Human Genetics,
2023
37085629 (PubMed
)
A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder.
Ullah A et al.
Neurogenetics,
2022
35460391 (PubMed
)
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