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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GSN

Variant:p.T190P

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GSN

NM_198252.3:p.T190P

hg38:chr9:121312393 A>C

Associated Papers

p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus.

Li Y et al.

Frontiers in Cell and Developmental Biology, 2020

33251218 (PubMed )

Supplement: Data_Sheet_1.docx

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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."