Associated Papers
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS13
Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy.
Ellis C et al.
Jaad Case Reports, 2021
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Niceta M et al.
American Journal of Human Genetics, 2015
25865493 (PubMed )
Supplement: mmc1.pdf
Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations.
Schumann H et al.
The British Journal of Dermatology, 2013
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