Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPU
Variant:p.Q170*
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HNRNPU

NM_031844.3:p.Q170*

Associated Papers

Multi-omics profiling of longitudinal samples reveals early genomic changes in follicular lymphoma.

Bai B et al.

Blood Cancer Journal, 2024

39191762 (PubMed )
Supplement: 41408_2024_1124_MOESM2_ESM.xlsx › Table_S3

Clinical variants paired with phenotype: A rich resource for brain gene curation.

Chopra M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants

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

Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.

Taylor J et al.

American Journal of Medical Genetics. Part A, 2022

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.

Feliciano P et al.

Npj Genomic Medicine, 2019

31452935 (PubMed )
Supplement: 41525_2019_93_MOESM12_ESM.xlsx › de_novo_SNV_indel
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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."