Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.A240G
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TUBA1A

NM_006009.4:p.A240G

Associated Papers

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

Schröter J et al.

European Journal of Human Genetics : Ejhg, 2022

35017693 (PubMed )
Supplement: 41431_2021_1027_MOESM5_ESM.xlsx › Tabelle1

The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline Mosaicism.

Brewer CJ et al.

The Journal of Molecular Diagnostics : Jmd, 2020

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