Varaico: Literature-Extracted Genetic Variants

Gene:PXDN
Variant:p.R380C
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PXDN

NM_012293.3:p.R380C

Associated Papers

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.

Marconi C et al.

Haematologica, 2023

36519321 (PubMed )
Supplement: 2022_280993_MARCONI_TABS5_SUPPL.xlsx › Foglio1

Deep sequencing reveals clonal evolution patterns and mutation events associated with relapse in B-cell lymphomas.

Jiang Y et al.

Genome Biology, 2014

25123191 (PubMed )
Supplement: 13059_2014_432_MOESM4_ESM.xlsx › Patient_1
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