Human Mutation

Journal

Overview
Identity

Publication Venue For

Analysis of patient-specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine. 43:30-41.

Disrupting TP53 in mouse models of human cancers. 21:321-326.

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. 24:491-501.

RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference. 29:299-305.

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations. [34, 11, 1537-1546, 10.1002/humu.22398]. 35:150-150.

Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals. 42:3-7.

International Standard Serial Number (issn)

1059-7794