Varaico: Literature-Extracted Genetic Variants

Gene:RBM8A
Variant:p.R109*
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RBM8A

NM_005105.5:p.R109*

Associated Papers

Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment.

Strauss G et al.

Hamostaseologie, 2023

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.

Boussion S et al.

Human Mutation, 2020

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