Varaico: Literature-Extracted Genetic Variants

Gene:ADD3
Variant:p.N332S
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ADD3

NM_016824.5:p.N332S

Associated Papers

Computational Saturation Mutagenesis Reveals Pathogenic and Structural Impacts of Missense Mutations in Adducin Proteins.

Meléndez-Aranda L et al.

Genes, 2025

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Gonçalves S et al.

Plos Genetics, 2018

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5
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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."