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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
TOPORS
Variant:
p.T782A
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TOPORS
NM_005802.5:p.T782A
hg38:chr9:32542181 T>C
Frequencies & domains
Associated Papers
Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.
Bowne SJ et al.
Molecular Vision,
2008
18509552 (PubMed
)
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