Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
Jussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al
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329 publications
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
Jussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al
MEK 1 inhibition and bleeding in hereditary haemorrhagic telangiectasia
Claire L. Shovlin, Dilip Patel, Adrianna Bielowka, et al
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Joohyun Park, Arianna Tucci, Valentina Cipriani et al.
A novel likely pathogenic CLCN5 variant in Dent's disease
S Hayward, J Norton, L Bownass, et al
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
Laura R Claus, Chuan Chen, Jennifer Stallworth et al