Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.E415G
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TUBA1A

NM_006009.4:p.E415G

Associated Papers

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Hebebrand M et al.

Orphanet Journal of Rare Diseases, 2019

30744660 (PubMed )
Supplement: 13023_2019_1020_MOESM2_ESM.xlsx › allTUBA1A_missense

Exome Pool-Seq in neurodevelopmental disorders.

Popp B et al.

European Journal of Human Genetics : Ejhg, 2017

29158550 (PubMed )
Supplement: 41431_2017_22_MOESM6_ESM.xlsx › misCADDover15
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