Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPH2
Variant:p.R212T
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HNRNPH2

NM_019597.5:p.R212T

Associated Papers

A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 linked to neurodevelopmental disorders.

Gonzalez A et al.

Structure (london, England : 1993), 2023

A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1.

Korff A et al.

The Journal of Clinical Investigation, 2023

Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.

Gonzalez JN et al.

Genes, 2023

A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 is linked to neurodevelopmental disorders.

Gonzalez A et al.

Biorxiv : the Preprint Server for Biology, 2023

Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder.

Salazar R et al.

Research in Developmental Disabilities, 2021

Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder.

Bain JM et al.

Neurology. Genetics, 2021

The HNRNPF/H RNA binding proteins and disease.

Brownmiller T et al.

Wiley Interdisciplinary Reviews. Rna, 0

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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."