Varaico: Literature-Extracted Genetic Variants

Gene:RBM28
Variant:p.D758G
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RBM28

NM_018077.3:p.D758G

Associated Papers

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1

Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years.

Hietamäki J et al.

Eclinicalmedicine, 2022

Rare variants in PLXNA4 and Parkinson's disease.

Schulte EC et al.

Plos One, 2013

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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."