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: CREBBP: P2285S; rs368174171

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Case Report: Molecular Characterization of Aggressive Malignant Retroperitoneal Solitary Fibrous Tumor: A Case Study.

Frontiers In Oncology

Nonaka, Haruna H; Kandori, Shuya S; Nitta, Satoshi S; Shiga, Masanobu M; Nagumo, Yoshiyuki Y; Kimura, Tomokazu T; Kawahara, Takashi T; Negoro, Hiromitsu H; Hoshi, Akio A; Kojima, Takahiro T; Kawai, Koji K; Mathis, Bryan J BJ; Tamura, Takuro T; Sato, Taka-Aki TA; Yamato, Mariko M; Noguchi, Masayuki M; Nishiyama, Hiroyuki H

Publication Date: 2021

Variant appearance in text: CREBBP: Pro2285Ser

PubMed Link: 35004271

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_2.xlsx, sheet 1

View BVdb publication page