Associated Papers
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
Falb RJ et al.
Journal of Medical Genetics, 2023
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
25527629 (PubMed )
Supplement: jmedgenet-2014-102803-s1.pdf
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