Associated Papers
A genetic variant in SMAD7 acts as a modifier of LMNA-associated muscular dystrophy, implicating SMAD signaling as a therapeutic target.
Mohar NP et al.
Science Advances, 2025
40249815 (PubMed )
Supplement: sciadv.ads7903_data_s1.zip › ads7903_data_s1.xlsx › VariantTable_121
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S7
Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing.
Husson T et al.
Translational Psychiatry, 2018
30518751 (PubMed )
Supplement: 41398_2018_291_MOESM1_ESM.pdf
Embryonic signature distinguishes pediatric and adult rhabdoid tumors from other SMARCB1-deficient cancers.
Richer W et al.
Oncotarget, 2017
28427232 (PubMed )
Supplement: oncotarget-08-34245-s004.xlsx › Sheet_1
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