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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OPLAH

Variant:p.R637W

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OPLAH

NM_017570.5:p.R637W

hg38:chr8:144056459 G>A

Associated Papers

Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?

Kasapkara ÇS et al.

Molecular Syndromology, 2024

39129838 (PubMed )

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