Varaico: Literature-Extracted Genetic Variants

Gene:CSN1S1
Variant:p.R26C
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CSN1S1

NM_001890.2:p.R26C

Associated Papers

Identification of genotype-biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency.

Sakuma I et al.

Communications Biology, 2023

37507476 (PubMed )
Supplement: 42003_2023_5160_MOESM7_ESM.xlsx › validated_by_Mutalyzer

Genomic and molecular characterization of esophageal squamous cell carcinoma.

Lin DC et al.

Nature Genetics, 2014

24686850 (PubMed )
Supplement: NIHMS573166-supplement-1.pdf
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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."