Genotype–phenotype associations among panel-based TP53+ subjects
Genotype–phenotype associations among panel-based TP53+ subjects
About this item
Full title
Author / Creator
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Panel testing has led to the identification of
TP53
pathogenic/likely pathogenic (P/LP) variant carriers (
TP53
+) who exhibit a broad range of phenotypes. We sought to evaluate and compare genotype–phenotype associations among
TP53
+ panel-ascertained subjects.
Methods
Between 2012 and 2017, 317
TP53
+ subj...
Alternative Titles
Full title
Genotype–phenotype associations among panel-based TP53+ subjects
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2232088556
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2232088556
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-019-0541-y
