Extended family with an inherited pathogenic variant in polymerase delta provides strong evidence for recessive effect of proofreading deficiency in human cells
Maria Andrianova(Lomonosov Moscow State University), Laura Valle(Institut d'Investigació Biomédica de Bellvitge), Georgii A. Bazykin(Lomonosov Moscow State University), Gemma Aiza(Institut d'Investigació Biomédica de Bellvitge), Ana Beatriz Sánchez‐Heras(Hospital General Universitario de Elche), Fyodor A. Kondrashov(Institució Catalana de Recerca i Estudis Avançats), Pilar Mur(Institut d'Investigació Biomédica de Bellvitge), Vladimir B. Seplyarskiy(Brigham and Women's Hospital), Mariona Terradas(Institut d'Investigació Biomédica de Bellvitge), José Luis Soto(Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana), Alexey S. Kondrashov(National Center for Biotechnology Information)
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