Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPH2
Variant:p.R206L
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HNRNPH2

NM_019597.5:p.R206L

Associated Papers

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Hamanaka K et al.

Npj Genomic Medicine, 2025

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

Gonzalez A et al.

Structure (london, England : 1993), 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

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

Bain JM et al.

Neurology. Genetics, 2021

Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.

Peron A et al.

American Journal of Medical Genetics. Part A, 2020

Decoding a cancer-relevant splicing decision in the RON proto-oncogene using high-throughput mutagenesis.

Braun S et al.

Nature Communications, 2018

30120239 (PubMed )
Supplement: 41467_2018_5748_MOESM4_ESM.xlsx › HEK293T_rep1

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."