Varaico: Literature-Extracted Genetic Variants

Gene:ERVW-1
Variant:p.P4L
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ERVW-1

NM_001130925.2:p.P4L

Associated Papers

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro.

Wattenhofer M et al.

Human Mutation, 2005

Autosomal dominant early childhood seizures associated with chondrocalcinosis and a mutation in the ANKH Gene.

McKee S et al.

Epilepsia, 2004

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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."