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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Gepubliceerd in:Hum Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Berlin Heidelberg 2021
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Original Investigation
Online toegang: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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