Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome.

Literature DB >> 30485398

Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome.

Alexandra Filatova¹, Valeria Freire¹, Ekaterina Lozier², Fedor Konovalov², Ludmila Bessonova¹, Elena Iudina³, Valentina Gnetetskaya³, Ilya Kanivets², Sergey Korostelev^2,4, Mikhail Skoblov^1,5.

Abstract

Entities: Disease Gene

Year: 2018 PMID： 30485398 DOI： 10.1111/cge.13472

Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438

Keyword Cloud
Cited

× No keyword cloud information.

1 in total

Review 1. KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.

Authors: Kishore Kumar; Anikha Bellad; Pramada Prasad; Satish Chandra Girimaji; Babylakshmi Muthusamy
Journal: BMC Med Genet Date: 2020-06-26 Impact factor: 2.103

1 in total