Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders

Dosyalar

Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity a retrospective study of sibling pairs with neurodevelopmental disorders.pdf (1.99 MB)

Tarih

Yazarlar

Bozkurt\\-Yozgatli, Tugce

Pehlivan, Davut

Gibbs, Richard A.

Posey, Jennifer E.

Lupski, James R.

Coban\\-Akdemir, Zeynep

DOI No

10.1186/s12920-024-01852-4

Diğer Tanımlayıcı No

WOS:001202561900001

Yayınevi

Anahtar kelimeler

Exome sequencing, Runs\\-of\\-homozygosity, Multilocus pathogenic variation, Neurodevelopmental disorders

URI

https://openaccess.acibadem.edu.tr/handle/11443/5842

Koleksiyonlar

Tam öğe sayfası