Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID) and the contribution of ARID. Here, we used a genotype-driven approach to study the geneti...

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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Järvelä, Irma, Määttä, Tuomo, Acharya, Anushree, Leppälä, Juha, Jhangiani, Shalini N., Arvio, Maria, Siren, Auli, Kankuri-Tammilehto, Minna, Kokkonen, Hannaleena, Palomäki, Maarit, Varilo, Teppo, Fang, Mary, Hadley, Trevor D., Jolly, Angad, Linnankivi, Tarja, Paetau, Ritva, Saarela, Anni, Kälviäinen, Reetta, Olme, Jan, Nouel-Saied, Liz M., Cornejo-Sanchez, Diana M., Llaci, Lorida, Lupski, James R., Posey, Jennifer E., Leal, Suzanne M., Schrauwen, Isabelle
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2021
Assuntos:
Original Investigation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8197721/
https://ncbi.nlm.nih.gov/pubmed/33710394
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-021-02268-1
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