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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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Détails bibliographiques
Publié dans:J Cell Commun Signal
Auteurs principaux: Kaur, Sukhbir, Roberts, David D.
Format: Artigo
Langue:Inglês
Publié: Springer Netherlands 2021
Sujets:
Accès en ligne: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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