Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16
Variant:p.D56delFs
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CLDN16

NM_006580.4:p.D56delFs

Associated Papers

Claudins in Renal Physiology and Pathology.

Prot-Bertoye C et al.

Genes, 2020

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.

Andreoletti G et al.

Journal of Medical Genetics, 2017

27811305 (PubMed )
Supplement: jmedgenet-2016-104100supp002.pdf

Revisiting disease genes based on whole-exome sequencing in consanguineous populations.

Shamia A et al.

Human Genetics, 2015

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