Articles with "disease relevant" as a keyword



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Prion-like properties of disease-relevant proteins in amyotrophic lateral sclerosis

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Published in 2018 at "Journal of Neural Transmission"

DOI: 10.1007/s00702-018-1851-y

Abstract: The hallmark of age-related neurodegenerative diseases is the appearance of cellular protein deposits and spreading of this pathology throughout the central nervous system. Growing evidence has shown the involvement and critical role of proteins with… read more here.

Keywords: properties disease; prion like; disease relevant; pathology ... See more keywords
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ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants.

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Published in 2018 at "American journal of human genetics"

DOI: 10.1016/j.ajhg.2018.08.005

Abstract: Advances in high-throughput DNA sequencing have revolutionized the discovery of variants in the human genome; however, interpreting the phenotypic effects of those variants is still a challenge. While several computational approaches to predict variant impact… read more here.

Keywords: disease relevant; tool; disease; prediction ... See more keywords