Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: RUNX2: P336L; rs1366398692

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Rationale for Combining the BCL2 Inhibitor Venetoclax with the PI3K Inhibitor Bimiralisib in the Treatment of IDH2- and FLT3-Mutated Acute Myeloid Leukemia.

International Journal Of Molecular Sciences

Seipel, Katja K; Brügger, Yvo Y; Mandhair, Harpreet H; Bacher, Ulrike U; Pabst, Thomas T

Publication Date: 2022-10-20

Variant appearance in text: AML3: P336L

PubMed Link: 36293442

Variant Present in the following documents:

• ijms-23-12587.pdf

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BMI1-Inhibitor PTC596 in Combination with MCL1 Inhibitor S63845 or MEK Inhibitor Trametinib in the Treatment of Acute Leukemia.

Cancers

Seipel, Katja K; Kopp, Basil B; Bacher, Ulrike U; Pabst, Thomas T

Publication Date: 2021-02-02

Variant appearance in text: AML3: P336L

PubMed Link: 33540760

Variant Present in the following documents:

• cancers-13-00581.pdf

View BVdb publication page