Article

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

2015-04-27

Abstract excerpt

<h4>ABSTRACT</h4> The role of rare missense variants in disease causation remains difficult to interpret. We explore whether the clustering pattern of rare missense variants (MAF<0.01) in a protein is associated with mode of inheritance. Mutations in genes associated with autosomal dominant (AD) conditions are known to result in either loss or gain of function, whereas mutations in genes associated with autosomal...

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Literature Corpus work: dbfe79b5-04e3-54cf-a548-6abfb6d7432b
DOI: 10.1101/018648

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