Associated Papers
Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency.
Benavides-Nieto M et al.
The Journal of Clinical Investigation, 2024
Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia.
Pardo LM et al.
Clinical Genetics, 2024
Third reported patient with RAP1B-related syndromic thrombocytopenia and novel clinical findings.
Miller D et al.
American Journal of Medical Genetics. Part A, 2022
De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.
Niemann JH et al.
Clinical Genetics, 2020
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