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Differential intolerance to loss of function and missense mutations in genes that encode human matricellular proteins

Targeted gene disruption in mice has provided valuable insights into the functions of matricellular proteins. Apart from missense and loss of function mutations that have been associated with inherited diseases, however, their functions in humans remain unclear. The availability of deep exome sequen...

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Dades bibliogràfiques
Publicat a:J Cell Commun Signal
Autors principals: Kaur, Sukhbir, Roberts, David D.
Format: Artigo
Idioma:Inglês
Publicat: Springer Netherlands 2021
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7904989/
https://ncbi.nlm.nih.gov/pubmed/33415696
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12079-020-00598-9
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