Varaico: Literature-Extracted Genetic Variants

Gene:TUBB
Variant:p.R282P
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TUBB

NM_178014.4:p.R282P

Associated Papers

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

Lu Y et al.

Human Genome Variation, 2017

28791129 (PubMed )
Supplement: hgv201735-s2.pdf

The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease.

Chakraborti S et al.

Cytoskeleton (hoboken, N.j.), 2016

Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.

Castro-Vega LJ et al.

Nature Communications, 2015

25625332 (PubMed )
Supplement: ncomms7044-s3.xlsx › Supplementary_Data_2
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