Novel germinal mutation in NF1: case report.

Javier Arredondo MonteroSantiago López ArbuesMónica Bronte AnautLourdes Morales GarofaloFermín García

Published in: Molecular biology reports (2021)

The mutation shown here has not been previously described. Reports of previously unknown mutations are an important source of knowledge that can contribute to improved genetic diagnosis and a better understanding of the pathophysiological and genetic characteristics of diseases.

Keyphrases

case report
genome wide
healthcare
signaling pathway
copy number
oxidative stress
lps induced
dna methylation
gene expression
immune response
electronic health record