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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AGRN

Variant:p.L1693P

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AGRN

NM_198576.4:p.L1693P

hg38:chr1:1050528 T>C

Associated Papers

AGRN Gene Mutation Leads to Congenital Myasthenia Syndromes: A Pediatric Case Report and Literature Review.

Gan S et al.

Neuropediatrics, 2020

32221959 (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."