- Dec 2024
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Disease: Von-willebrand Disorder Type 3
Patient: 26 yo, female
Variant: VWF NM_000552.5 c:997+118 T>G g.(6073501 A>C), homozygous, intronic
Phenotypes: No detectable VWF in plasma, early onset bleeding complications, epistaxis, easy bruising, bleeding following injury, menorrhagia, iron-deficient anemia
Note: underwent prophylaxis replacement therapy, on-demand antihemorrhagic treatments, oral contraceptives, and replacement therapy.
Family: not mentioned
Predictions:
VEP SpliceAI tool predicted variant likely deleterious (delta score 0.95)
Used Polyphen-2 and SIFT which determined pathogenic likelihood.
Neural Network Splicing, Alternative Splice Site Predictor, plug-in MaxEnt(For 5' donor site) of Human Splicing Finder all concur this variant can create a new donor splice site in intron 8. Contains premature stop codon and susceptible to NMD.
Functional work:
qRT-PCR performed to identify levels of VWF in IP-derived endothelial cells.
histochemical immunostaining for IP-derived endothelial cells confirm no VWF production, only a residual amount present. Suggests leaky mutation.
performed RNA sequencing to assess co-regulated gene networks
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www.youtube.com www.youtube.com
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endomorph body type = good weight gainers = bad weight losers.<br /> thats the whole secret of the "fat acceptance" tragedy / comedy.
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- Feb 2019
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mypy.readthedocs.io mypy.readthedocs.io
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Type hints cheat sheet (Python 3)¶ This document is a quick cheat sheet showing how the PEP 484 type annotation notation represents various common types in Python 3.
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- Feb 2014
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ubuntuone.com ubuntuone.com
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Chapter 1, The Art of Community We begin the book with a bird’s-eye view of how communities function at a social science level. We cover the underlying nuts and bolts of how people form communities, what keeps them involved, and the basis and opportunities behind these interactions. Chapter 2, Planning Your Community Next we carve out and document a blueprint and strategy for your community and its future growth. Part of this strategy includes the target objectives and goals and how the community can be structured to achieve them. PREFACE xix Chapter 3, Communicating Clearly At the heart of community is communication, and great communicators can have a tremendously positive impact. Here we lay down the communications backbone and the best practices associated with using it
Reading the first 3 chapters of AoC for discussion in #coasespenguin on 2013-02-11.
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