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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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Detalhes bibliográficos
Publicado no:J Cell Commun Signal
Main Authors: Kaur, Sukhbir, Roberts, David D.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Netherlands 2021
Assuntos:
Acesso em linha: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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