Associated Papers
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
Sagath L et al.
European Journal of Human Genetics : Ejhg, 2025
40517164 (PubMed )
Supplement: 41431_2025_1891_MOESM3_ESM.xlsx › STable1._LOVD
Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.
Silverstein S et al.
Hgg Advances, 2025
39318092 (PubMed )
Supplement: mmc1.pdf
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
Sagath L et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39802796 (PubMed )
Supplement: media-1.xlsx › STable1._LOVD
Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.
Silverstein S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38585796 (PubMed )
Supplement: media-1.pdf
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