Journal article 607 views
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene
Human Mutation, Volume: 33, Issue: 12, Pages: 1687 - 1696
Swansea University Author: Laura Thomas
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DOI (Published version): 10.1002/humu.22162
Abstract
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene
Published in: | Human Mutation |
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ISSN: | 1059-7794 |
Published: |
Wiley
2012
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Online Access: |
Check full text
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URI: | https://cronfa.swan.ac.uk/Record/cronfa54903 |
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College: |
Faculty of Medicine, Health and Life Sciences |
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Issue: |
12 |
Start Page: |
1687 |
End Page: |
1696 |