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Clin Genet. 2019 Mar;95(3):440-441. doi: 10.1111/cge.13472. Epub 2018 Nov 28.

Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KU─îINSKAS syndrome.

Author information

1
Research Centre for Medical Genetics, Moscow, Russia.
2
Genomed Ltd., Moscow, Russia.
3
MD Medical Group "Mother and Child", Moscow, Russia.
4
Institute of Professional Education, I. M. Sechenov First Moscow State Medical University, Moscow, Russia.
5
School of Biomedicine, Far Eastern Federal University, Vladivostok, Russia.
PMID:
30485398
DOI:
10.1111/cge.13472

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