Varaico: Literature-Extracted Genetic Variants

Gene:DDX19A
Variant:p.L202Splc
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DDX19A

NM_018332.5:p.L202Splc

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
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