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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
EME2
Variant:
p.R3W
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EME2
NM_001257370.2:p.R3W
hg38:chr16:1773234 C>T
Frequencies & domains
Associated Papers
A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.
Hamdan N et al.
Clinical Genetics,
2020
32578875 (PubMed
)
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