Varaico: Literature-Extracted Genetic Variants

Gene:IQCB1
Variant:p.N517Y
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IQCB1

NM_001023570.4:p.N517Y

Associated Papers

Increased burden of rare variants in GWAS associated genes in familial multiple sclerosis.

Turk A et al.

Scientific Reports, 2025

40592943 (PubMed )
Supplement: 41598_2025_4741_MOESM1_ESM.xlsx › Table_S2

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Diñeiro M et al.

Acta Ophthalmologica, 2020

32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12

Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.

Verduin M et al.

Neuro-oncology Advances, 0

38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_5.xlsx › SNVs
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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."