Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L3
Variant:p.T950K
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EPB41L3

NM_012307.5:p.T950K

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 Reveals Recurrent but Heterogeneous Mutational Profiles in Sporadic WHO Grade 1 Meningiomas.

González-Tablas M et al.

Frontiers in Oncology, 2021

34868937 (PubMed )
Supplement: DataSheet_1.docx

Mutational analysis of the DAL-1/4.1B tumour-suppressor gene locus in meningiomas.

Martinez-Glez V et al.

International Journal of Molecular Medicine, 2005

Multiple meningiomas: Investigating the molecular basis of sporadic and familial forms.

Heinrich B et al.

International Journal of Cancer, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."