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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ROGDI
Variant:
p.L43V
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ROGDI
NM_024589.3:p.L43V
hg38:chr16:4801576 G>C
Frequencies & domains
Associated Papers
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.
Volk A et al.
Molecular Syndromology,
2015
25852444 (PubMed
)
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