Varaico: Literature-Extracted Genetic Variants

Gene:NOD2
Variant:p.P397L
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NOD2

NM_022162.3:p.P397L

Associated Papers

Potential Composite Digenic Contribution of NPC1 and NOD2 Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study.

Azab B et al.

Genes, 2022

Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.

Horowitz JE et al.

Scientific Reports, 2021

33692434 (PubMed )
Supplement: 41598_2021_84938_MOESM2_ESM.xlsx › Table_S3
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