Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.L3543delFs
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PKHD1

NM_138694.4:p.L3543delFs

Associated Papers

Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.

Ward CJ et al.

Human Molecular Genetics, 2003

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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."