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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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first_indexed 2020-09-15T10:10:18Z
last_indexed 2020-09-16T03:19:11Z
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spelling 2020-09-15T11:21:05.4041210 v2 54903 2020-08-06 Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene 6f80a1638d852bd88d37afe3aeb2fb62 0000-0002-8621-5285 Laura Thomas Laura Thomas true false 2020-08-06 BMS Journal Article Human Mutation 33 12 1687 1696 Wiley 1059-7794 1 12 2012 2012-12-01 10.1002/humu.22162 COLLEGE NANME Biomedical Sciences COLLEGE CODE BMS Swansea University 2020-09-15T11:21:05.4041210 2020-08-06T17:30:52.1635264 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine Laura Thomas 0000-0002-8621-5285 1 Mark Richards 2 Matthew Mort 3 Elaine Dunlop 4 David N. Cooper 5 Meena Upadhyaya 6
title Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene
spellingShingle 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
title_short Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene
title_full Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene
title_fullStr Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene
title_full_unstemmed Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene
title_sort Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene
author_id_str_mv 6f80a1638d852bd88d37afe3aeb2fb62
author_id_fullname_str_mv 6f80a1638d852bd88d37afe3aeb2fb62_***_Laura Thomas
author Laura Thomas
author2 Laura Thomas
Mark Richards
Matthew Mort
Elaine Dunlop
David N. Cooper
Meena Upadhyaya
format Journal article
container_title Human Mutation
container_volume 33
container_issue 12
container_start_page 1687
publishDate 2012
institution Swansea University
issn 1059-7794
doi_str_mv 10.1002/humu.22162
publisher Wiley
college_str Faculty of Medicine, Health and Life Sciences
hierarchytype
hierarchy_top_id facultyofmedicinehealthandlifesciences
hierarchy_top_title Faculty of Medicine, Health and Life Sciences
hierarchy_parent_id facultyofmedicinehealthandlifesciences
hierarchy_parent_title Faculty of Medicine, Health and Life Sciences
department_str Swansea University Medical School - Medicine{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}Swansea University Medical School - Medicine
document_store_str 0
active_str 0
published_date 2012-12-01T04:08:44Z
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score 11.03559

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