Varaico: Literature-Extracted Genetic Variants

Gene:UBR5
Variant:p.C2768W
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UBR5

NM_015902.6:p.C2768W

Associated Papers

UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature.

Reuter MS et al.

Npj Genomic Medicine, 2025

41318701 (PubMed )
Supplement: 41525_2025_536_MOESM1_ESM.pdf

Genomic characteristics and prognostic correlations in Chinese multiple myeloma patients.

Chen X et al.

Bmc Medical Genomics, 2025

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Sabeh P et al.

American Journal of Human Genetics, 2025

Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study.

Jeong S et al.

Scientific Reports, 2020

32770099 (PubMed )
Supplement: 41598_2020_70310_MOESM1_ESM.pdf

APOBEC3A is an oral cancer prognostic biomarker in Taiwanese carriers of an APOBEC deletion polymorphism.

Chen TW et al.

Nature Communications, 2017

28878238 (PubMed )
Supplement: 41467_2017_493_MOESM5_ESM.xlsx › CCP_MAF_TS6
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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."