Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN14
Variant:p.D203G
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SEPTIN14

NM_207366.3:p.D203G

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

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C
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