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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TJP1

Variant:p.E135D

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TJP1

NM_001330239.4:p.E135D

hg38:chr15:29766450 T>A

Associated Papers

Functional Characterization of Four Known Cav2.1 Variants Associated with Neurodevelopmental Disorders.

Folacci M et al.

Membranes, 2023

36676903 (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."