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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
EXO1
Variant:
p.Q677*
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EXO1
NM_130398.4:p.Q677*
hg38:chr1:241879263 C>T
Frequencies & domains
Associated Papers
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
Bowne SJ et al.
Human Molecular Genetics,
1999
10484783 (PubMed
)
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