Varaico: Literature-Extracted Genetic Variants

Gene:RELA
Variant:p.D512delins
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RELA

NM_021975.4:p.D512delins

Associated Papers

A Case-Based Literature Review of RELA Associated Inflammatory Diseases.

Karaçayır N et al.

Journal of Clinical Immunology, 2026

Clinical, genetic aspects and molecular pathogenesis of osteopetrosis.

Nadyrshina DD et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2023

Case report: Novel variants in RELA associated with familial Behcet's-like disease.

An JW et al.

Frontiers in Immunology, 2023

A Novel RELA Truncating Mutation in a Familial Behçet's Disease-like Mucocutaneous Ulcerative Condition.

Adeeb F et al.

Arthritis & Rheumatology (hoboken, N.j.), 2021

Genetics of Osteopetrosis.

Palagano E et al.

Current Osteoporosis Reports, 2018

Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65).

Frederiksen AL et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016

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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."