The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand
Raw data to the paper " Lifetime risk of autosomal recessive kidney diseases calculated from genetic databases". All (likely) pathogenic included variants, their allele frequencies as listed in our in
Legend: (p) pre = protein code position in pre-protein; (p) mature = protein code positionin mature protein; EC = Extracellular Cadherin like domain. Other abbreviations are listed in Table 3 legend.
A type of lower motor neuron (LMN) disease inherited as autosomal recessive in Romney sheep was characterized with normal appearance at birth, but with progressive weakness and tetraparesis after th
