Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.L276S
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TFAP2A

NM_001372066.1:p.L276S

Associated Papers

OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.

Montjean R et al.

Human Molecular Genetics, 2015

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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."