Varaico: Literature-Extracted Genetic Variants

Gene:SLC31A1
Variant:p.L79P
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SLC31A1

NM_001859.4:p.L79P

Associated Papers

A C. elegans model of copper deficiency: Dietary interventions rescue CTR1/CHCA-1 copper transporter mutant phenotype.

Fu Y et al.

Plos Genetics, 2026

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

Juliá-Palacios N et al.

Brain Communications, 2025

Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1.

Dame C et al.

Clinical Genetics, 2023

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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."