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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
OPTN
Variant:
p.E322Q
Back to variants list
OPTN
NM_001008212.2:p.E322Q
hg38:chr10:13124076 G>C
Frequencies & domains
Associated Papers
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.
Micheal S et al.
Neurogenetics,
2016
26489929 (PubMed
)
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