Varaico: Literature-Extracted Genetic Variants

Gene:TJP1
Variant:p.Y550fs
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TJP1

NM_001330239.4:p.Y550fs

Associated Papers

Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients.

Islam MS et al.

Endocrine Journal, 2019

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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."