Varaico: Literature-Extracted Genetic Variants

Gene:PDP1
Variant:p.V253A
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PDP1

NM_018444.4:p.V253A

Associated Papers

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era.

Baldo MS et al.

Genes, 2023

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL4
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