Associated Papers
A Rare Variant in MDH2 (rs111879470) Is Associated with Predisposition to Recurrent Breast Cancer in an Extended High-Risk Pedigree.
Cannon-Albright LA et al.
Cancers, 2023
38136396 (PubMed )
Supplement: cancers-15-05851-s001.zip › cancers-2619236-supplementary_MDH2_V2.xlsx › Table_S1
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nielsen JB et al.
Nature Communications, 2020
33339817 (PubMed )
Supplement: 41467_2020_20086_MOESM4_ESM.xlsx › Data_S12
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
Pagnamenta AT et al.
European Journal of Human Genetics : Ejhg, 2017
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