Varaico: Literature-Extracted Genetic Variants

Gene:CLDN16
Variant:p.A127T
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CLDN16

NM_006580.4:p.A127T

Associated Papers

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
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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."