Publications:

Pirtobrutinib Targets BTK C481S in Ibrutinib-Resistant CLL but Second-Site BTK Mutations Lead to Resistance.

Blood Advances

Naeem, Aishath A; Utro, Filippo F; Wang, Qing Q; Cha, Justin J; Vihinen, Mauno M; Martindale, Stephen P SP; Zhou, Yinglu Y; Ren, Yue Y; Tyekucheva, Svitlana S; Kim, Annette S AS; Fernandes, Stacey M SM; Saksena, Gordon G; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Danysh, Brian P BP; Slowik, Kara K; Jacobs, Raquel A RA; Davids, Matthew S MS; Lederer, James A JA; Zain, Rula R; Smith, C I Edvard CIE; Leshchiner, Ignaty I; Parida, Laxmi L; Getz, Gad G; Brown, Jennifer R JR

Publication Date: 2022-10-26

Variant appearance in text: TUBA1A: P72P

PubMed Link: 36287227

Variant Present in the following documents:

• BLOODA_ADV-2022-008447-mmc1.xlsx, sheet 1

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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: 216C>G

PubMed Link: 35017693

Variant Present in the following documents:

• 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page