Last Updated: 09/26/2026
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Found 5 publications
Patient-reported actions following receipt of pathogenic hereditary cancer genetic test results: results from a population-based screening study in primary care.
Journal: BMC primary care
Published: October 31, 2025
An APC Mutation in a Large Chinese Kindred With Familial Adenomatous Polyposis Was Identified Using Both Next Generation Sequencing and Simple STR Marker Haplotypes.
Journal: Frontiers in genetics
Published: July 19, 2019
A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.
Journal: PloS one
Published: November 16, 2016
Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma.
Journal: Experimental dermatology
Published: November 21, 2014
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Last Updated: 09/26/2026