Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.R363C
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CAT

NM_001752.4:p.R363C

Associated Papers

Whole-exome sequencing screening for candidate genes and variants associated with primary sporadic keratoconus in Chinese patients.

Song C et al.

Experimental Eye Research, 2024

Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.

Wang T et al.

Computational and Structural Biotechnology Journal, 2023

38213898 (PubMed )
Supplement: mmc2.xlsx › RIVs_in_VARGs

Copy number signatures and mutational processes in ovarian carcinoma.

Macintyre G et al.

Nature Genetics, 2018

30104763 (PubMed )
Supplement: NIHMS78219-supplement-3.xlsx › mutated_cases

Integrated analysis of recurrent properties of cancer genes to identify novel drivers.

D'Antonio M et al.

Genome Biology, 2013

23718799 (PubMed )
Supplement: gb-2013-14-5-r52-S2.XLSX › TableS7
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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."