Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A12
Variant:p.Q342R
Back to variants list

SLC39A12

NM_001145195.2:p.Q342R

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

Role of zinc transporter ZIP12 in susceptibility-weighted brain magnetic resonance imaging (MRI) phenotypes and mitochondrial function.

Strong MD et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."