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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPI1

Variant:p.H186Y

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TPI1

NM_000365.6:p.H186Y

hg38:chr12:6870061 C>T

Associated Papers

Challenges in the Diagnosis and Management of Triosephosphate Isomerase Deficiency: A Case Report.

Ramos C et al.

Reports (mdpi), 2025

40981120 (PubMed )

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