Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
Jussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al
Movement Disorders
DOI: 10.1002/mds.29651
Neurology
Publications
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329 publications
Data usage
MEK 1 inhibition and bleeding in hereditary haemorrhagic telangiectasia
Claire L. Shovlin, Dilip Patel, Adrianna Bielowka, et al
The British Journal of Haematology
DOI: 10.1111/bjh.19167
Respiratory
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.
Genetics in Medicine
DOI: 10.1016/j.gim.2023.100961
Hearing and sight
Neurology
A novel likely pathogenic CLCN5 variant in Dent's disease
S Hayward, J Norton, L Bownass, et al
BMC Nephrology
DOI: 10.1186/s12882-023-03292-1
Renal (kidney)
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
Kidney International
DOI: 10.1016/j.kint.2023.07.021
Renal (kidney)
