Varaico: Literature-Extracted Genetic Variants

Gene:UCMA
Variant:p.R135C
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UCMA

NM_145314.3:p.R135C

Associated Papers

Large-scale whole-exome sequencing analyses identified protein-coding variants associated with immune-mediated diseases in 350,770 adults.

Yang L et al.

Nature Communications, 2024

39009607 (PubMed )
Supplement: 41467_2024_49782_MOESM4_ESM.xlsx › Supplementary_Data_18

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Pinheiro M et al.

Cancers, 2020

32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2
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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."