Associated Papers
Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination.
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Nature Structural & Molecular Biology, 2024
38287193 (PubMed )
Supplement: 41594_2023_1209_MOESM1_ESM.pdf
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
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Supplement: mmc2.xlsx › Sheet1
Characterizing mutagenic effects of recombination through a sequence-level genetic map.
Halldorsson BV et al.
Science (new York, N.y.), 2019
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
Effective Therapeutic Intervention and Comprehensive Genetic Analysis of mTOR Signaling in PEComa: A Case Report.
Weeber F et al.
Anticancer Research, 2015
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