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
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__
Rare inactivating PDE11A variants associated with testicular germ cell tumors.
Pathak A et al.
Endocrine-related Cancer, 2015
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