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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RBM28

Variant:p.D249G

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RBM28

NM_018077.3:p.D249G

hg38:chr7:128335910 T>C

Associated Papers

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

Hietamäki J et al.

Eclinicalmedicine, 2022

35875813 (PubMed )

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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."