Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia.

Stephanie L HinesJohn E RichterAhmed N MohammadJain MahimPaldeep S AtwalThomas R Caulfield

Published in: Molecular genetics & genomic medicine (2019)

Protein informatics and molecular modeling are used to confirm the pathogenicity of the unique TRPV4 variant found in this family. Multiple data were combined in a comprehensive manner to give complete overall perspective on the patient disease and prognosis.

Keyphrases

electronic health record
big data
protein protein
neuropathic pain
amino acid
case report
binding protein
drinking water
artificial intelligence
escherichia coli
cystic fibrosis