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

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Abstract:

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Autores:

Bessonova L., Filatova A.Y., Gnetetskaya V., Iudina E., Kanivets I., Konovalov F., Korostelev S., Lozier E., Maria Valeria Freire, Skoblov M.Y.

Fuentes:

scopus