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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLS

Variant:p.E122G

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GLS

NM_014905.5:p.E122G

hg38:chr2:190881449 A>G

Associated Papers

Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations.

Nguyen HH et al.

Frontiers in Pediatrics, 2020

32793520 (PubMed )

Supplement: Table_3.DOCX

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