Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.P108L
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CAT

NM_001752.4:p.P108L

Associated Papers

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

T cell signaling abnormalities in systemic lupus erythematosus are associated with increased mutations/polymorphisms and splice variants of T cell receptor zeta chain messenger RNA.

Nambiar MP et al.

Arthritis and Rheumatism, 2001

Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.

Meyer J et al.

Human Molecular Genetics, 1997

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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."