Varaico: Literature-Extracted Genetic Variants

Gene:HUWE1
Variant:p.M4213I
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HUWE1

NM_031407.7:p.M4213I

Associated Papers

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.

Yahia A et al.

European Journal of Human Genetics : Ejhg, 2024

Integrative analysis of genomic and transcriptomic data of normal, tumour, and co-occurring leukoplakia tissue triads drawn from patients with gingivobuccal oral cancer identifies signatures of tumour initiation and progression.

Ghosh A et al.

The Journal of Pathology, 2022

35358331 (PubMed )
Supplement: PATH-257-593-s018.xlsx › Table_S10

Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.

Yahia A et al.

Annals of Human Genetics, 2022

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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."