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Faculty Opinions recommendation of Linking genome variants to disease: Scalable approaches to test the functional impact of human mutations.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
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10.3410/f.740584598.793587815
◽
2021
◽
Author(s):
Nicola Mulder
Keyword(s):
Functional Impact
◽
Genome Variants
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Sleep Functional Impact Scale
PsycTESTS Dataset
◽
10.1037/t08488-000
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2011
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Author(s):
Christopher Bell
◽
Lori D. McLeod
◽
Lauren M. Nelson
◽
Sheri E. Fehnel
◽
Laurie J. Zografos
◽
...
Keyword(s):
Functional Impact
◽
Impact Scale
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Recombinant expression, purification and functional impact of CTGF/CCN2 and NOV/CCN3 on liver fibrogenesis
Zeitschrift für Gastroenterologie
◽
10.1055/s-0030-1269456
◽
2011
◽
Vol 49
(01)
◽
Author(s):
W Bohr
◽
S Lux
◽
E Borkham-Kamphorst
◽
E Van de Leur
◽
M Kupper
◽
...
Keyword(s):
Recombinant Expression
◽
Functional Impact
◽
Liver Fibrogenesis
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Functional impact of FKBP51 on cellular pathways
Pharmacopsychiatry
◽
10.1055/s-0031-1292474
◽
2011
◽
Vol 44
(06)
◽
Author(s):
NC Gassen
◽
Y Han
◽
G Wochnik
◽
F Holsboer
◽
T Rein
Keyword(s):
Functional Impact
◽
Cellular Pathways
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Functional Impact of a Closed-loop Controlled Grasping Neuroprosthesis in Post-stroke Patients (PREHENSTROKE)
Case Medical Research
◽
10.31525/ct1-nct03946488
◽
2019
◽
Author(s):
Keyword(s):
Closed Loop
◽
Stroke Patients
◽
Functional Impact
◽
Post Stroke
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Faculty Opinions recommendation of Origins and functional impact of copy number variation in the human genome.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.1836967.1378068
◽
2010
◽
Author(s):
R Frank Kooy
Keyword(s):
Copy Number Variation
◽
Human Genome
◽
Copy Number
◽
Functional Impact
◽
Number Variation
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Faculty Opinions recommendation of Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.717648004.793152804
◽
2012
◽
Author(s):
Alon Keinan
Keyword(s):
Deep Sequencing
◽
Functional Impact
Download Full-text
Faculty Opinions recommendation of Gene expression elucidates functional impact of polygenic risk for schizophrenia.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.726777942.793536213
◽
2017
◽
Author(s):
Genevieve Konopka
Keyword(s):
Gene Expression
◽
Functional Impact
◽
Polygenic Risk
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Faculty Opinions recommendation of A systematic p53 mutation library links differential functional impact to cancer mutation pattern and evolutionary conservation.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.733583656.793550379
◽
2018
◽
Author(s):
Martha Bulyk
◽
Tim Read
Keyword(s):
Evolutionary Conservation
◽
P53 Mutation
◽
Functional Impact
◽
Cancer Mutation
◽
Mutation Pattern
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Recent Advances in Predicting Functional Impact of Single Amino Acid Polymorphisms: A Review of Useful Features, Computational Methods and Available Tools
Current Bioinformatics
◽
10.2174/1574893611308020004
◽
2013
◽
Vol 8
(2)
◽
pp. 161-176
◽
Cited By ~ 6
Author(s):
Mingjun Wang
◽
Zhongwei Sun
◽
Tatsuya Akutsu
◽
Jiangning Song
Keyword(s):
Amino Acid
◽
Computational Methods
◽
Single Amino Acid
◽
Functional Impact
◽
Recent Advances
◽
Single Amino Acid Polymorphisms
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Epileptic encephalopathy caused by ARV1 deficiency: refinement of the genotype–phenotype spectrum and functional impact on GPI ‐anchored proteins
Clinical Genetics
◽
10.1111/cge.14033
◽
2021
◽
Author(s):
Smrithi Salian
◽
Marcello Scala
◽
Thi Tuyet Mai Nguyen
◽
Mariasavina Severino
◽
Andrea Accogli
◽
...
Keyword(s):
Epileptic Encephalopathy
◽
Functional Impact
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