Varaico: Literature-Extracted Genetic Variants

Gene:CLEC16A
Variant:p.L994F
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CLEC16A

NM_015226.3:p.L994F

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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