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Elsahy-Waters syndrome is caused by biallelic mutations in CDH11
2018 - Forschungsinformationssystem des UKE
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor
2018 - Forschungsinformationssystem des UKE
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy
2018 - Forschungsinformationssystem des UKE