Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPU
Variant:p.K574del1
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HNRNPU

NM_031844.3:p.K574del1

Associated Papers

[Analysis of a child with neurodevelopmental disorders due to variant of HNRNPU gene and a literature review].

Yin X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.

Lee S et al.

European Journal of Human Genetics : Ejhg, 2023

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.

Rooney K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X et al.

Science Advances, 2022

35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
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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."