Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPH1
Variant:p.R114W
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HNRNPH1

NM_001257293.2:p.R114W

Associated Papers

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

Bain JM et al.

Neurology. Genetics, 2021

DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age.

Peeters S et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

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

Reichert SC et al.

Clinical Genetics, 2020

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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."