Varaico: Literature-Extracted Genetic Variants

Gene:UACA
Variant:p.I1038T
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UACA

NM_001008224.3:p.I1038T

Associated Papers

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

Wormser O et al.

European Journal of Human Genetics : Ejhg, 2019

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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."