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Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A

May 03, 2023 |

By Atneosen-Åsegg M, Ytre-Arne ME, Sorte HS, Reims HM

| ncbi.nlm.nih.gov

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Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A

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