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A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome
Ganapathi, Mythily; Buchovecky, Christie M.; Cristo, Fernando; Ahimaz, Priyanka; Ruzal-Shapiro, Carrie; Wou, Karen; Inácio, José M.; Iglesias, AlejandroFunding J.A.B. acknowledges funding from iNOVA4Health-UID/Multi/04462/2013, a program financially supported by Fundação para a Ciência e Tecnologia/Ministério da Educação e Ciência through national funds and cofunded by Fundo Europeu de Desenvolvimento Regional (FEDER) under the PT2020 Partnership Agreement.; The majority of heterotaxy cases do not obtain a molecular diagnosis, although pathogenic variants in m...
Date: 2022
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Origin: Repositório Institucional da UNL