Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns
نویسندگان
چکیده
منابع مشابه
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns.
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 autoso...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2015
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddv309