Related references
Note: Only part of the references are listed.FATHMM-XF: accurate prediction of pathogenic point mutations via extended features
Mark F. Rogers et al.
BIOINFORMATICS (2018)
Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT
Katsuhiko Itoh et al.
JOURNAL OF DERMATOLOGY (2015)
Mutation in AQP5, Encoding Aquaporin 5, Causes Palmoplantar Keratoderma Bothnia Type
Xu Cao et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2014)
Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma
Diana C. Blaydon et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Share Paper
