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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIP5KL1

Variant:p.S190R

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PIP5KL1

NM_001135219.2:p.S190R

hg38:chr9:127927323 T>G

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."