Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.P461S
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ITPKB

NM_002221.4:p.P461S

Associated Papers

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Wong S et al.

Embo Molecular Medicine, 2023

37066513 (PubMed )
Supplement: EMMM-15-e17078-s005.xlsx › Compound_Hets

Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy: Clinical Evaluation and Identification of the Genetic Basis.

Alió Del Barrio JL et al.

American Journal of Ophthalmology, 2020

Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.

Ramassone A et al.

Journal of Hematology & Oncology, 2019

31744508 (PubMed )
Supplement: 13045_2019_802_MOESM7_ESM.xlsx › Foglio1
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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."