Varaico: Literature-Extracted Genetic Variants

Gene:CLDN19
Variant:p.L90R
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CLDN19

NM_148960.3:p.L90R

Associated Papers

Claudins in Renal Physiology and Pathology.

Prot-Bertoye C et al.

Genes, 2020

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

Khan AO et al.

Ophthalmic Genetics, 2018

Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.

Yamaguti PM et al.

Journal of Medical Genetics, 2017

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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."