Varaico: Literature-Extracted Genetic Variants

Gene:KYAT1
Variant:p.R138C
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KYAT1

NM_004059.5:p.R138C

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

Tumor mutation burden and recurrent tumors in hereditary lung cancer.

Hsu YC et al.

Cancer Medicine, 2019

30941903 (PubMed )
Supplement: CAM4-8-2179-s001.xlsx › S2
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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."