Publications:

Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.

Plos Computational Biology

Attard, Thomas J TJ; Welburn, Julie P I JPI; Marsh, Joseph A JA

Publication Date: 2022-10

Variant appearance in text: TUBA1A: V288M

PubMed Link: 36206299

Variant Present in the following documents:

• pcbi.1010611.s002.xlsx, sheet 2

View BVdb publication page

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

European Journal Of Human Genetics : Ejhg

Schröter, Julian J; Popp, Bernt B; Brennenstuhl, Heiko H; Döring, Jan H JH; Donze, Stephany H SH; Bijlsma, Emilia K EK; van Haeringen, Arie A; Huhle, Dagmar D; Jestaedt, Leonie L; Merkenschlager, Andreas A; Arelin, Maria M; Gräfe, Daniel D; Neuser, Sonja S; Oates, Stephanie S; Pal, Deb K DK; Parker, Michael J MJ; Lemke, Johannes R JR; Hoffmann, Georg F GF; Kölker, Stefan S; Harting, Inga I; Syrbe, Steffen S

Publication Date: 2022-03

Variant appearance in text: TUBA1A: Val288Met

PubMed Link: 35017693

Variant Present in the following documents:

• 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page