Varaico: Literature-Extracted Genetic Variants

Gene:RPN2
Variant:p.R562Q
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RPN2

NM_002951.5:p.R562Q

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

Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation.

Gellert P et al.

Nature Communications, 2016

27827358 (PubMed )
Supplement: ncomms13294-s3.xlsx › Phase_I
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