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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLDN19

Variant:p.T135_A136delFs

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CLDN19

NM_148960.3:p.T135_A136delFs

hg38:chr1:42738295 GCAGT>G

Associated Papers

Claudins in Renal Physiology and Pathology.

Prot-Bertoye C et al.

Genes, 2020

32164158 (PubMed )

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

Khan AO et al.

Ophthalmic Genetics, 2018

30067419 (PubMed )

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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."