Varaico: Literature-Extracted Genetic Variants

Gene:NEB
Variant:p.K7141fs
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NEB

NM_001164508.2:p.K7141fs

Associated Papers

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

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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