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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UNC45A

Variant:p.R676_A677Splc

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UNC45A

NM_001039675.2:p.R676_A677Splc

hg38:chr15:90949721 G>A

Associated Papers

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

Almaas R et al.

Journal of Hepatology, 2023

37328071 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."