Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.H283R
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TUBA1A

NM_006009.4:p.H283R

Associated Papers

Missense variants in TUBA4A cause myo-tubulinopathies.

Johari M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features.

Saidin A et al.

Genes, 2024

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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."