Varaico: Literature-Extracted Genetic Variants

Gene:ERN1
Variant:p.L6M
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ERN1

NM_001433.5:p.L6M

Associated Papers

Neonatal erythroderma in a patient with cartilage-hair hypoplasia: Identification of a novel RMRP mutation.

López-Pardo Rico M et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2025

Mutations in Ras homolog family member A in patients with peripheral T-cell lymphoma and implications for personalized medicine.

Hu L et al.

Cancer Biology & Medicine, 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."