Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome.
Alexandra Yu FilatovaValeria FreireEkaterina R TolmachevaFedor KonovalovLudmila BessonovaElena IudinaValentina GnetetskayaIlya KanivetsSergey KorostelevMikhail SkoblovPublished in: Clinical genetics (2018)
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