Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A1
Variant:p.T454M
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SLC34A1

NM_003052.5:p.T454M

Associated Papers

Identification of a Novel Homozygous SLC34A1 Missense Mutation and a Heterozygous SLC34A3 Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.

Mura-Escorche G et al.

International Journal of Molecular Sciences, 2025

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