Associated Papers
Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients.
Sokkar MF et al.
Journal, Genetic Engineering & Biotechnology, 2023
CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients.
Germeshausen M et al.
Haematologica, 2021
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Wang S et al.
Cell Reports, 2018
30257206 (PubMed )
Supplement: NIHMS1508956-supplement-3.xlsx › sequence_variants
Advances in the understanding of congenital amegakaryocytic thrombocytopenia.
Ballmaier M et al.
British Journal of Haematology, 2009
19388932 (PubMed )
Supplement: supplement_1.pdf
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
Germeshausen M et al.
Human Mutation, 2006
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