Associated Papers
Impairment of DET1 causes neurological defects and lethality in mice and humans.
Karayel O et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
Select a paper to view details