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Identification of five novel SPRED1 germline mutations in Legius syndrome

S Laycock-van Spyk, HP Jim, Laura Thomas Orcid Logo, G Spurlock, L Fares, S Palmer-Smith, U Kini, A Saggar, M Patton, V Mautner, DT Pilz, M Upadhyaya

Clinical Genetics, Volume: 80, Issue: 1, Pages: 93 - 96

Swansea University Author: Laura Thomas Orcid Logo

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DOI (Published version): 10.1111/j.1399-0004.2010.01618.x

Published in: Clinical Genetics
ISSN: 0009-9163
Published: Wiley 2011
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URI: https://cronfa.swan.ac.uk/Record/cronfa54906
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spelling 2020-09-15T11:30:31.3783221 v2 54906 2020-08-06 Identification of five novel SPRED1 germline mutations in Legius syndrome 6f80a1638d852bd88d37afe3aeb2fb62 0000-0002-8621-5285 Laura Thomas Laura Thomas true false 2020-08-06 MEDS Journal Article Clinical Genetics 80 1 93 96 Wiley 0009-9163 1 7 2011 2011-07-01 10.1111/j.1399-0004.2010.01618.x COLLEGE NANME Medical School COLLEGE CODE MEDS Swansea University 2020-09-15T11:30:31.3783221 2020-08-06T17:32:28.9377028 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine S Laycock-van Spyk 1 HP Jim 2 Laura Thomas 0000-0002-8621-5285 3 G Spurlock 4 L Fares 5 S Palmer-Smith 6 U Kini 7 A Saggar 8 M Patton 9 V Mautner 10 DT Pilz 11 M Upadhyaya 12
title Identification of five novel SPRED1 germline mutations in Legius syndrome
spellingShingle Identification of five novel SPRED1 germline mutations in Legius syndrome
Laura Thomas
title_short Identification of five novel SPRED1 germline mutations in Legius syndrome
title_full Identification of five novel SPRED1 germline mutations in Legius syndrome
title_fullStr Identification of five novel SPRED1 germline mutations in Legius syndrome
title_full_unstemmed Identification of five novel SPRED1 germline mutations in Legius syndrome
title_sort Identification of five novel SPRED1 germline mutations in Legius syndrome
author_id_str_mv 6f80a1638d852bd88d37afe3aeb2fb62
author_id_fullname_str_mv 6f80a1638d852bd88d37afe3aeb2fb62_***_Laura Thomas
author Laura Thomas
author2 S Laycock-van Spyk
HP Jim
Laura Thomas
G Spurlock
L Fares
S Palmer-Smith
U Kini
A Saggar
M Patton
V Mautner
DT Pilz
M Upadhyaya
format Journal article
container_title Clinical Genetics
container_volume 80
container_issue 1
container_start_page 93
publishDate 2011
institution Swansea University
issn 0009-9163
doi_str_mv 10.1111/j.1399-0004.2010.01618.x
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 2011-07-01T04:49:47Z
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score 11.089572

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