Varaico: Literature-Extracted Genetic Variants

Gene:DIAPH1
Variant:p.L720F
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DIAPH1

NM_005219.5:p.L720F

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_TABS4_SUPPL.xlsx › Foglio1

Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus.

deCampo D et al.

Frontiers in Neurology, 2023

37077567 (PubMed )
Supplement: Data_Sheet_1.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."