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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RNF216

Variant:p.L569_I570del0

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RNF216

NM_207111.4:p.L569_I570del0

hg38:chr7:5715175 CAATCAG>C

Associated Papers

Hypogonadotropic Hypogonadism as First Presentation of the Severe Neuroendocrine Disorder Caused by RNF216.

Rochtus A et al.

Jcem Case Reports, 2024

39444518 (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."