Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPH1
Variant:p.R206Q
Back to variants list

HNRNPH1

NM_001257293.2:p.R206Q

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

37463454 (PubMed )
Supplement: jci-133-160309-s139.pdf

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

HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.

Reichert SC et al.

Clinical Genetics, 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_MOESM11_ESM.xlsx › related_to_Fig._1e
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."