Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of medical genetics"
DOI: 10.1136/jmg-2022-108960
Abstract: NF2-related schwannomatosis is an autosomal dominant tumour predisposition condition that causes multiple benign tumours of the nervous system, especially schwannomas. This results from germline pathogenic variants in the NF2 gene, which are most commonly de… read more here.
Keywords: rates germline; variants nf2; differential rates; nonsense variants ... See more keywords