Varaico: Literature-Extracted Genetic Variants

Gene:SLC31A2
Variant:p.S29L
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SLC31A2

NM_001860.3:p.S29L

Associated Papers

Copper-independent lysosomal localisation of the Wilson disease protein ATP7B.

Maji S et al.

Traffic (copenhagen, Denmark), 2023

Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.

Deng Z et al.

Nature Communications, 2023

37402769 (PubMed )
Supplement: 41467_2023_39761_MOESM5_ESM.xlsx › original

Wilson's Disease-Genetic Puzzles with Diagnostic Implications.

Gromadzka G et al.

Diagnostics (basel, Switzerland), 2023

Identification of potential modifier genes in Chinese patients with Wilson disease.

Zhou D et al.

Metallomics : Integrated Biometal Science, 2022

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