Associated Papers
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.
De Matteis MA et al.
Nature Reviews. Nephrology, 2017
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