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
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S15
Mutation of perinatal myosin heavy chain.
Stratakis CA et al.
The New England Journal of Medicine, 2004
Mutation of perinatal myosin heavy chain.
Brown MA
The New England Journal of Medicine, 2004
Mutation of perinatal myosin heavy chain.
Morita H et al.
The New England Journal of Medicine, 2004
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