Associated Papers
[Two cases of congenital isolated adrenocorticotropic hormone deficiency due to pathogenic variants in TBX19].
Skorodok YL et al.
Problemy Endokrinologii, 2025
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Sakaguchi N et al.
Npj Genomic Medicine, 2022
35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1
A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin.
Charnay T et al.
Frontiers in Endocrinology, 2022
Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency.
Maudhoo A et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2021
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