Varaico: Literature-Extracted Genetic Variants

Gene:CLDN19
Variant:p.Y47delFs
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CLDN19

NM_148960.3:p.Y47delFs

Associated Papers

Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation.

Khan AO et al.

Ophthalmic Genetics, 2018

Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair.

Sharma S et al.

Clinical Nephrology, 2016

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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."