Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16
Variant:p.F55S
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CLDN16

NM_006580.4:p.F55S

Associated Papers

Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.

Yang D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Family.

Thapa R et al.

Calcified Tissue International, 2024

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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."