Varaico: Literature-Extracted Genetic Variants

Gene:RPN2
Variant:p.G374D
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RPN2

NM_002951.5:p.G374D

Associated Papers

Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation.

Kas SM et al.

Scientific Reports, 2023

37848450 (PubMed )
Supplement: 41598_2023_42178_MOESM5_ESM.xlsx › OST_complex_clinvar_result

Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.

de la Morena-Barrio ME et al.

Pediatric Research, 2018

Screening for OST deficiencies in unsolved CDG-I patients.

Vleugels W et al.

Biochemical and Biophysical Research Communications, 2009

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."