Associated Papers
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
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