Varaico: Literature-Extracted Genetic Variants

Gene:RAPSN
Variant:p.Y362fs
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RAPSN

NM_005055.5:p.Y362fs

Associated Papers

Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.

Theuriet J et al.

Brain : a Journal of Neurology, 2024

38696726 (PubMed )
Supplement: awae124_supplementary_data.pdf

The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.

Liao X et al.

Biomolecules & Biomedicine, 2023

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
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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."