Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.
Perea-Cabrera M et al.
Molecular Genetics & Genomic Medicine, 2023
MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac.
Du H et al.
Plos One, 2014
A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain.
Hu CH et al.
American Journal of Medical Genetics. Part A, 2012
Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.
Hsieh EW et al.
American Journal of Medical Genetics. Part A, 2008
MID1 mutations in patients with X-linked Opitz G/BBB syndrome.
Fontanella B et al.
Human Mutation, 2008
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.
De Falco F et al.
American Journal of Medical Genetics. Part A, 2003
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.
Cox TC et al.
Human Molecular Genetics, 2000
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