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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RAPSN

Variant:p.C366G

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RAPSN

NM_005055.5:p.C366G

hg38:chr11:47438802 A>C

Associated Papers

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

Liao X et al.

Biomolecules & Biomedicine, 2023

36815443 (PubMed )

The Curse of Apneic Spells.

Radke J et al.

Seminars in Pediatric Neurology, 2018

29961520 (PubMed )

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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."