Varaico: Literature-Extracted Genetic Variants

Gene:JAG2
Variant:p.W235R
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JAG2

NM_002226.5:p.W235R

Associated Papers

Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy.

Dofash L et al.

Neuromuscular Disorders : Nmd, 2024

Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene.

Nikitin S et al.

Frontiers in Pediatrics, 2024

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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."