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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
OPTN
Variant:
p.E56Splc
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OPTN
NM_001008212.2:p.E56Splc
hg38:chr10:13109296 G>T
Frequencies & domains
Associated Papers
Evaluation of SPARC as a candidate gene of juvenile-onset primary open-angle glaucoma by mutation and copy number analyses.
Chen LJ et al.
Molecular Vision,
2010
21042566 (PubMed
)
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