Varaico: Literature-Extracted Genetic Variants

Gene:NEB
Variant:p.D7174_I7175Splc
Back to variants list

NEB

NM_001164508.2:p.D7174_I7175Splc

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

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."