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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
RPGR
Variant:
p.E747_E748insTG
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RPGR
NM_001034853.2:p.E747_E748insTG
hg38:chrX:38286760 C>CNNNNNN
Frequencies & domains
Associated Papers
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
Neidhardt J et al.
Molecular Vision,
2008
18552978 (PubMed
)
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