Varaico: Literature-Extracted Genetic Variants

Gene:ZC4H2
Variant:p.N199H
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ZC4H2

NM_018684.4:p.N199H

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

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.

Herman I et al.

American Journal of Medical Genetics. Part A, 2022

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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."