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Updated: Mar 15, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights

Jun Kido1,2, Hiroe Ueno3, Yohei Misumi4

  • 1Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan. kidojun@kuh.kumamoto-u.ac.jp.

Human Genome Variation
|March 14, 2026
PubMed
Abstract

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