Varaico: Literature-Extracted Genetic Variants

Gene:TJP1
Variant:p.H325P
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TJP1

NM_001330239.4:p.H325P

Associated Papers

A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene.

Zanotta N et al.

Seizure, 2024

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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."