Characterisation of protein-truncating and missense variants in

Autor:	Pei Sze, Ng, Rick Acm, Boonen, Eldarina, Wijaya, Chan Eng, Chong, Milan, Sharma, Sabine, Knaup, Shivaani, Mariapun, Weang Kee, Ho, Joanna, Lim, Sook-Yee, Yoon, Nur Aishah, Mohd Taib, Mee Hoong, See, Jingmei, Li, Swee Ho, Lim, Ern Yu, Tan, Benita Kiat-Tee, Tan, Su-Ming, Tan, Veronique Kiat-Mien, Tan, Rob Martinus, van Dam, Kartini, Rahmat, Cheng Har, Yip, Sara, Carvalho, Craig, Luccarini, Caroline, Baynes, Alison M, Dunning, Antonis, Antoniou, Haico, van Attikum, Douglas F, Easton, Mikael, Hartman, Soo Hwang, Teo
Rok vydání:	2020
Předmět:	Male Mice Singapore Malaysia Animals Humans Breast Neoplasms Female Genetic Predisposition to Disease Fanconi Anemia Complementation Group N Protein Germ-Line Mutation
Zdroj:	Journal of medical genetics. 59(5)
ISSN:	1468-6244
Popis:	Rare protein-truncating variants (PTVs) in partner and localiser of BRCA2 (Mutation testing was performed on germline DNA (n=15 768) using targeted sequencing panels. The functional impact of missense variants was tested in mouse embryonic stem cell based functional assays.PTVs inDespite genetic and lifestyle differences between Asian and other populations, the population prevalence of
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::572839743e475ed4a963c58eb7c3b99e https://pubmed.ncbi.nlm.nih.gov/33811135 Zobrazit plný text záznamu