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Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene

Laura Thomas Orcid Logo, Mark Richards, Matthew Mort, Elaine Dunlop, David N. Cooper, Meena Upadhyaya

Human Mutation, Volume: 33, Issue: 12, Pages: 1687 - 1696

Swansea University Author: Laura Thomas Orcid Logo

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DOI (Published version): 10.1002/humu.22162

Published in: Human Mutation
ISSN: 1059-7794
Published: Wiley 2012
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URI: https://cronfa.swan.ac.uk/Record/cronfa54903
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College: Faculty of Medicine, Health and Life Sciences
Issue: 12
Start Page: 1687
End Page: 1696