Varaico: Literature-Extracted Genetic Variants

Gene:TUBB4A
Variant:p.R391L
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TUBB4A

NM_006087.4:p.R391L

Associated Papers

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.

Gavazzi F et al.

Molecular Genetics and Metabolism, 2025

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

35599849 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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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."