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
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
29649263 (PubMed )
Supplement: pone.0195761.s004.xlsx › S4
SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects.
Deak KL et al.
Human Genetics, 2005
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