Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A1
Variant:p.L143_S144del1
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SLC34A1

NM_003052.5:p.L143_S144del1

Associated Papers

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.

Pronicka E et al.

Journal of Applied Genetics, 2017

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