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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PANK3

Variant:p.G262R

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PANK3

NM_024594.4:p.G262R

hg38:chr5:168563917 C>G

Associated Papers

A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.

Werning M et al.

Biomolecules, 2022

35204826 (PubMed )

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