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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PRPH
Variant:
p.R316_Q320del0
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PRPH
NM_006262.4:p.R316_Q320del0
hg38:chr12:49297224 GACGCCAGATCCA>G
Frequencies & domains
Associated Papers
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
Gamundi MJ et al.
Molecular Vision,
2007
17653047 (PubMed
)
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