| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/NG0407-427 |
| P698 | PubMed publication ID | 17392796 |
| P50 | author | Constantinos Deltas | Q37380500 |
| Roser Torra | Q47094427 | ||
| Jitka Štekrová | Q54867400 | ||
| Stephane Burtey | Q56958606 | ||
| Carine H. Wouters | Q77393750 | ||
| Luba Kalaydjieva | Q108603605 | ||
| P2093 | author name string | Stefan Somlo | |
| Elizabeth Petri Henske | |||
| York Pei | |||
| Akio Koizumi | |||
| Richard Sandford | |||
| Alexander M Gout | |||
| Peter C Harris | |||
| Jana Reiterova | |||
| Yvo M Smulders | |||
| Steve Jeffery | |||
| Claude Ferec | |||
| David Ravine | |||
| Sumiko Inoue | |||
| Sandro Rossetti | |||
| Wanna Thongnoppakhun | |||
| Gianluca Aguiari | |||
| Laura Del Senno | |||
| Pa-thai Yenchitsomanus | |||
| Dorien Peters | |||
| Jose L San Millan | |||
| Martijn Breuning | |||
| Michel Fontes | |||
| Nadja Bogdanova | |||
| Bernard Mercier | |||
| Yoshiko Shimizu | |||
| ADPKD Gene Variant Consortium | |||
| Alberto E Turco | |||
| Laszlo M Furu | |||
| Lee Jung Geon | |||
| Marie McCluskey | |||
| P2860 | cites work | Mistaken identifiers: gene name errors can be introduced inadvertently when using Excel in bioinformatics | Q24803868 |
| Artemis: sequence visualization and annotation | Q27861024 | ||
| Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion | Q29616531 | ||
| The challenge of documenting mutation across the genome: the human genome variation society approach | Q35755776 | ||
| Benchmark for evaluating the quality of DNA sequencing: proposal from an international external quality assessment scheme | Q48704903 | ||
| Standardizing mutation nomenclature: why bother? | Q48721826 | ||
| Error detection in text: do feedback and familiarity help? | Q51939311 | ||
| Technical standards and guidelines: molecular genetic testing for ultra-rare disorders | Q64047267 | ||
| Genetic testing and quality control in diagnostic laboratories | Q73977123 | ||
| Proof of “disease causing” mutation | Q74673745 | ||
| P433 | issue | 4 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 427-428 | |
| P577 | publication date | 2007-04-01 | |
| P13046 | publication type of scholarly work | review article | Q7318358 |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | Analysis of published PKD1 gene sequence variants | |
| P478 | volume | 39 |
| Q56889983 | Curating gene variant databases (LSDBs): toward a universal standard |
| Q38110459 | DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome |
| Q34050928 | High Resolution Melt analysis for mutation screening in PKD1 and PKD2. |
| Q38629282 | Human genotype-phenotype databases: aims, challenges and opportunities |
| Q37460645 | Interpreting secondary cardiac disease variants in an exome cohort |
| Q36247119 | Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes |
| Q38211672 | Mutation databases for inherited renal disease: are they complete, accurate, clinically relevant, and freely available? |
| Q35125247 | Pretransplant genetic testing of live kidney donors at risk for autosomal dominant polycystic kidney disease |
| Q24646762 | Recommendations for locus-specific databases and their curation |
| Q38266621 | The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease. |
| Q36695676 | Towards a European consensus for reporting incidental findings during clinical NGS testing |
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