Associated Papers
Computational prediction of human deep intronic variation.
Barbosa P et al.
Gigascience, 2022
37878682 (PubMed )
Supplement: giad085_reviewer_1_report_original_submission.pdf
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.
Upadhyai P et al.
Human Mutation, 2021
Select a paper to view details