Varaico: Literature-Extracted Genetic Variants

Gene:RNF220
Variant:p.F48I
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RNF220

NM_018150.4:p.F48I

Associated Papers

Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.

Wongkittichote P et al.

Clinical Genetics, 2023

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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."