Last Updated: 09/26/2026
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Found 4 publications
GESPA: classifying nsSNPs to predict disease association.
Journal: BMC bioinformatics
Published: May 07, 2015
A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis.
Journal: Neuropathology : official journal of the Japanese Society of Neuropathology
Published: July 25, 2007
A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.
Journal: American journal of human genetics
Published: February 19, 2004
Molecular diagnosis of cystic fibrosis.
Journal: Expert review of molecular diagnostics
Published: June 08, 2002
Showing 1-4 of 4
Last Updated: 09/26/2026