GeneticsbioRxiv
Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns
Tychele Turner, Christopher Douville, Dewey Kim…·Rachel Karchin
The paper examines rare missense mutations in proteins linked to autosomal dominant and recessive disorders, finding distinct clustering patterns that differ from controls and each other.
DOI 10.1093/hmg/ddv309