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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Nov 3, 2024. (Total: 233167Documents)
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Query Trace: Orofaciodigital Syndrome 5[original query]
Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome.
International journal of molecular sciences 2024 7 25 (14): .
Desirée Deconte, Bruna Lixinski Diniz, Jéssica K Hartmann, Mateus A de Souza, Laira F F Zottis, Paulo Ricardo Gazzola Zen, Rafael F M Rosa, Marilu Fiegenba
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