Varaico: Literature-Extracted Genetic Variants

Gene:PLBD1
Variant:p.S247G
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PLBD1

NM_024829.6:p.S247G

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
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