Associated Papers
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants.
Penon M et al.
Molecular Genetics & Genomic Medicine, 2018
30047259 (PubMed )
Supplement: MGG3-6-722-s002.xlsx › Helices_and_beta_sheets_clinvar
Congenital myotubular myopathy with a novel MTM1 gene mutation in a premature infant presenting with ventilator dependency and intrahepatic cholestasis.
Lee IC et al.
Journal of Child Neurology, 2012
Prenatal diagnosis of X-linked myotubular myopathy.
Chen CP et al.
Prenatal Diagnosis, 2010
X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child.
Chang CY et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2008
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