Associated Papers
Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.
Awad F et al.
Frontiers in Reproductive Health, 2025
41341611 (PubMed )
Supplement: Datasheet1.xlsx › Patient_1
Genetic mutations in lymphocytic variant of hypereosinophilic syndrome: study of five siblings.
Walkenhorst M et al.
Frontiers in Medicine, 2025
41488087 (PubMed )
Supplement: Table_1.xlsx › Data
Recurrent GNAQ mutation encoding T96S in natural killer/T cell lymphoma.
Li Z et al.
Nature Communications, 2019
31527657 (PubMed )
Supplement: 41467_2019_12032_MOESM1_ESM.pdf
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Ogata T et al.
Plos One, 2014
24637876 (PubMed )
Supplement: pone.0091598.s006.pdf
Select a paper to view details