Report of rare and novel mutations in candidate genes in a cohort of hearing-impaired patients.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1887
Abstract: BACKGROUND Many hearing-impaired patients carry mutations in rare or novel genes undetected in regular genetic hot regions/genes screening. METHODS We collected clinical and genetic data from subjects with hearing loss who visited our department for… read more here.
Keywords: novel mutations; impaired patients; hearing impaired; rare novel ... See more keywords
Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2020.116669
Abstract: BAKGROUND Hereditary Spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of degenerative disorders characterized by progressive spasticity and weakness of the lower limbs. This study aimed to identify causative gene variants in two… read more here.
Keywords: rare novel; novel cyp2u1; family; zfyve26 ... See more keywords