An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD® and dbSNP databases
Author:
Funder
Ministry of Education and Science of Russia
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-021-02316-w.pdf
Reference47 articles.
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2. Abolhassani H, Azizi G, Sharifi L, Yazdani R, Mohsenzadegan M, Delavari S, Sohani M, Shirmast P, Chavoshzadeh Z, Mahdaviani SA, Kalantari A, Tavakol M, Jabbari-Azad F, Ahanchian H, Momen T, Sherkat R, Sadeghi-Shabestari M, Aleyasin S, Esmaeilzadeh H, Al-Herz W, Bousfiha AA, Condino-Neto A, Seppänen M, Sullivan KE, Hammarström L, Modell V, Modell F, Quinn J, Orange JS, Aghamohammadi A (2020) Global systematic review of primary immunodeficiency registries. Expert Rev Clin Immunol 16(7):717–732. https://doi.org/10.1080/1744666X.2020.1801422
3. Alyousfi D, Baralle D, Collins A (2019) Gene-specific metrics to facilitate identification of disease genes for molecular diagnosis in patient genomes: a systematic review. Brief Funct Genom 18(1):23–29. https://doi.org/10.1093/bfgp/ely033
4. Anderson D, Lassmann T (2018) A phenotype centric benchmark of variant prioritisation tools. NPJ Genom Med 3:5. https://doi.org/10.1038/s41525-018-0044-9
5. Babbi G, Martelli PL, Profiti G, Bovo S, Savojardo C, Casadio R (2017) eDGAR: a database of Disease-Gene Associations with annotated Relationships among genes. BMC Genom 18(Suppl 5):554. https://doi.org/10.1186/s12864-017-3911-3
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