Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A2
Variant:p.H54Y
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SLC30A2

NM_001004434.3:p.H54Y

Associated Papers

Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.

Silva DB et al.

American Journal of Human Genetics, 2024

38781976 (PubMed )
Supplement: mmc2.xlsx › Data

High proportion of transient neonatal zinc deficiency causing alleles in the general population.

Golan Y et al.

Journal of Cellular and Molecular Medicine, 2019

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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."