Zobrazeno 1 - 2
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pro vyhledávání: '"K. M. Tahsin Hassan Rahit"'
Publikováno v:
BMC Bioinformatics, Vol 25, Iss 1, Pp 1-21 (2024)
Abstract Background Thousands of genes have been associated with different Mendelian conditions. One of the valuable sources to track these gene-disease associations (GDAs) is the Online Mendelian Inheritance in Man (OMIM) database. However, most of
Externí odkaz:
https://doaj.org/article/7aefc60d39234aef92cb47ca135280c8
Publikováno v:
Genes, Vol 11, Iss 3, p 239 (2020)
Genes
Genes
Despite advances in high-throughput sequencing that have revolutionized the discovery of gene defects in rare Mendelian diseases, there are still gaps in translating individual genome variation to observed phenotypic outcomes. While we continue to im