Phenotypic manifestations of C5orf42 pathogenic variants

Joubert syndrome is a genetic disease with an autosomal-recessive or X-linked inheritance pattern caused by pathogenic variants in at least 35 genes, all encoding structures of the primary cilium involved in signaling pathways that coordinate the normal development of the kidneys, retina, brain, liv...

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Váldodahkkit: Elena-Silvia Shelby (Dahkki), Relu Cocos (Dahkki), Madalina Cristina Leanca (Dahkki), Andrada Mirea (Dahkki), Diana Barca (Dahkki)
Materiálatiipa: Girji
Almmustuhtton: Amaltea Medical Publishing House, 2022-03-01T00:00:00Z.
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3rd Floor Main Library

oažžasuvvan: 3rd Floor Main Library
Hildobáiki: A1234.567
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