New insights into genetic variant spectrum and genotype–phenotype
Por um escritor misterioso
Last updated 15 fevereiro 2025
![New insights into genetic variant spectrum and genotype–phenotype](https://onlinelibrary.wiley.com/cms/asset/c5d7dea1-848e-4b28-9475-24fafff19e8c/mgg3972-fig-0002-m.jpg)
![New insights into genetic variant spectrum and genotype–phenotype](https://www.csbj.org/cms/asset/ddbe9f07-a7ae-4605-9977-570feef79a1c/gr1.jpg)
GPCards: An integrated database of genotype–phenotype correlations in human genetic diseases - Computational and Structural Biotechnology Journal
![New insights into genetic variant spectrum and genotype–phenotype](https://www.mdpi.com/diagnostics/diagnostics-13-02348/article_deploy/html/images/diagnostics-13-02348-g001.png)
Diagnostics, Free Full-Text
![New insights into genetic variant spectrum and genotype–phenotype](https://www.frontiersin.org/files/Articles/900548/fgene-13-900548-HTML-r1/image_m/fgene-13-900548-g001.jpg)
Frontiers Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome
![New insights into genetic variant spectrum and genotype–phenotype](https://www.researchgate.net/publication/333662641/figure/fig4/AS:958958634291232@1605644963688/Insights-into-the-genetic-architecture-of-EE-DEE-Summary-of-the-insights-into-the.png)
Insights into the genetic architecture of EE/DEE. Summary of the
![New insights into genetic variant spectrum and genotype–phenotype](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41588-022-01148-2/MediaObjects/41588_2022_1148_Fig1_HTML.png)
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
![New insights into genetic variant spectrum and genotype–phenotype](https://www.thelancet.com/cms/asset/28b99da6-92d6-4d96-bb00-621a97192a52/gr1a.jpg)
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes - The Lancet Oncology
![New insights into genetic variant spectrum and genotype–phenotype](https://www.embl.org/news/wp-content/uploads/2023/03/2023-BIRNEY-Rare-eye-diseases-1000x600-1.png)
Large-scale study enables new insights into rare eye disorders
![New insights into genetic variant spectrum and genotype–phenotype](https://www.cell.com/cms/attachment/ca225065-ea8b-49d8-9934-7d4b86cbed54/gr1_lrg.jpg)
How does genetic variation modify ND-CNV phenotypes?: Trends in Genetics
![New insights into genetic variant spectrum and genotype–phenotype](https://ars.els-cdn.com/content/image/1-s2.0-S2666979X21000823-fx1.jpg)
Machine learning enables new insights into genetic contributions to liver fat accumulation - ScienceDirect
![New insights into genetic variant spectrum and genotype–phenotype](https://www.cell.com/cms/asset/16c4da3c-80d8-473a-811b-6208db9412ca/gr1.jpg)
Translating High-Throughput Phenotyping into Genetic Gain: Trends in Plant Science
![New insights into genetic variant spectrum and genotype–phenotype](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41598-023-32169-4/MediaObjects/41598_2023_32169_Fig1_HTML.png)
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
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