Associated Papers
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.
Faridi R et al.
Genes, 2024
39062623 (PubMed )
Supplement: genes-15-00845-s001.zip › genes-3045527-Table_S4.xlsx › PKDF1419_SumandMuh_121423_Genet
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.
Sangiorgi E et al.
European Journal of Human Genetics : Ejhg, 2019
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