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_2
Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation.
Kurashige T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2020
Prediction of structural consequences for disease causing variants in C21orf2 protein using computational approaches.
Iyer S et al.
Journal of Biomolecular Structure & Dynamics, 2019
Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3.
Zhang W et al.
Genes and Immunity, 0
23615072 (PubMed )
Supplement: NIHMS458938-supplement-1.xls › Supplemental_table_3
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