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
Rare Pathogenic Variants in Mitochondrial and Inflammation-Associated Genes May Lead to Inflammatory Cardiomyopathy in Chagas Disease.
Ouarhache M et al.
Journal of Clinical Immunology, 2021
Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease.
Kim YW et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021
33576571 (PubMed )
Supplement: ALZ-17-831-s002.xlsx › Table_S4
Whole-exome sequencing in evaluation of patients with venous thromboembolism.
Lee EJ et al.
Blood Advances, 2017
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Bakhchane A et al.
Plos One, 2017
28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1
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