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Analysis of published PKD1 gene sequence variants

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Figure 1: Errors were grouped into three categories: misassignment, miscounting and typographical.

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Acknowledgements

The members of the ADPKD Gene Variant Consortium have been critical in this collaborative effort of verifying the accuracy of the peer-reviewed PKD1 gene variants included in this retrospective audit. This work was supported by funding from the PKD Foundation. We are grateful to J. Crowhurst and H. Scott for their careful scrutiny of the manuscript. The encouragement of R. Cotton in the preparation of this report is appreciated.

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Correspondence to David Ravine.

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Corresponding authors of publications describing variants within the PKD1 gene

Supplementary information

Supplementary Table 1

Source references. (PDF 41 kb)

Supplementary Table 2

Erroneous variant reports. (PDF 82 kb)

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Gout, A., the ADPKD Gene Variant Consortium. & Ravine, D. Analysis of published PKD1 gene sequence variants. Nat Genet 39, 427–428 (2007). https://doi.org/10.1038/ng0407-427

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