Associated Papers
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › e__Freq_TP095
WDR36 and P53 gene variants and susceptibility to primary open-angle glaucoma: analysis of gene-gene interactions.
Blanco-Marchite C et al.
Investigative Ophthalmology & Visual Science, 2011
Profiling of WDR36 missense variants in German patients with glaucoma.
Pasutto F et al.
Investigative Ophthalmology & Visual Science, 2008
Variations in the WDR36 gene in German patients with normal tension glaucoma.
Weisschuh N et al.
Molecular Vision, 2007
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