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Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation. (2020)

First Author: Martinelli S

Attributed to: Using transcriptomics to transform the diagnosis and understanding of inherited adult neurological disorders funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1002/humu.24007

PubMed Identifier: 32112654

Publication URI: http://europepmc.org/abstract/MED/32112654

Type: Journal Article/Review

Volume: 41

Parent Publication: Human mutation

Issue: 6

ISSN: 1059-7794