Resultado de búsqueda
Mutations are cataloged in OMIM in the Allelic Variants section of gene entries (see 1.2).For most genes, only selected mutations are included. Criteria for inclusion include the first mutation to be discovered, high population frequency, distinctive phenotype, historic significance, unusual mechanism of mutation, unusual pathogenetic mechanism, and distinctive inheritance (e.g., dominant with ...
Aquí nos gustaría mostrarte una descripción, pero el sitio web que estás mirando no lo permite.
16 de mar. de 2021 · OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources. Entry - *300335 - ANGIOTENSIN I-CONVERTING ENZYME 2; ACE2 - OMIM
1 de ene. de 2015 · OMIM also has a derivative table of genes and genetic phenotypes, the Morbid Map. OMIM.org has enhanced search capabilities such as genome coordinate searching and thesaurus-enhanced search term options. Phenotypic series have been created to facilitate viewing genetic heterogeneity of phenotypes.
25 de ene. de 2022 · OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources. Entry - #602849 - MUENKE SYNDROME; MNKES - OMIM
Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes. OMIM focuses on the relationship between phenotype and ...
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources. Entry - *276903 - MYOSIN VIIA; MYO7A - OMIM
