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: DNMT3A: A149V; rs767055283

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Clinical impact of panel-based error-corrected next generation sequencing versus flow cytometry to detect measurable residual disease (MRD) in acute myeloid leukemia (AML).

Leukemia

Patkar, Nikhil N; Kakirde, Chinmayee C; Shaikh, Anam Fatima AF; Salve, Rakhi R; Bhanshe, Prasanna P; Chatterjee, Gaurav G; Rajpal, Sweta S; Joshi, Swapnali S; Chaudhary, Shruti S; Kodgule, Rohan R; Ghoghale, Sitaram S; Deshpande, Nilesh N; Shetty, Dhanalaxmi D; Khizer, Syed Hasan SH; Jain, Hasmukh H; Bagal, Bhausaheb B; Menon, Hari H; Khattry, Navin N; Sengar, Manju M; Tembhare, Prashant P; Subramanian, Papagudi P; Gujral, Sumeet S

Publication Date: 2021-05

Variant appearance in text: DNMT3A: A149V

PubMed Link: 33558666

Variant Present in the following documents:

• 41375_2021_1131_MOESM1_ESM.pdf

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Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology

Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K

Publication Date: 2019

Variant appearance in text: DNMT3A: 446C>T; A149V

PubMed Link: 30886832

Variant Present in the following documents:

• Table_2.xls, sheet 2
• Table_2.xls, sheet 1

View BVdb publication page