Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPH2
Variant:p.R188*
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HNRNPH2

NM_019597.5:p.R188*

Associated Papers

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes.

Mokhtari A et al.

Clinical Genetics, 2026

Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.

Gonzalez JN et al.

Genes, 2023

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.

Kreienkamp HJ et al.

Human Genetics, 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."