Associated Papers
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
38800615 (PubMed )
Supplement: mmc2.xlsx › P4-X_hemiz.
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle_without_known
Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.
Bianco AM et al.
Molecular Medicine Reports, 2015
A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.
Ołdak M et al.
European Journal of Pediatrics, 2015
Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.
Ołdak M et al.
Human Mutation, 2014
Select a paper to view details