Varaico: Literature-Extracted Genetic Variants

Gene:EMP2
Variant:p.L4P
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EMP2

NM_001424.6:p.L4P

Associated Papers

A recurrent variant in two patients with EMP2-nEDD.

Peng Y et al.

The British Journal of Dermatology, 2026

A recurrent de novo damaging variant in EMP2 causes progressive symmetric erythrokeratoderma.

Jiang X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

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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."