Varaico: Literature-Extracted Genetic Variants

Gene:SLC34A3
Variant:p.V480_V490del0
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SLC34A3

NM_001177316.2:p.V480_V490del0

Associated Papers

Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.

Dasgupta D et al.

Journal of the American Society of Nephrology : Jasn, 2014

HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN SLC34A3 AND LITERATURE REVIEW.

Bhadada SK et al.

Aace Clinical Case Reports, 0

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