Publications:

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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: FH: A20T; rs572324497

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology

Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M

Publication Date: 2022-10

Variant appearance in text: FH: 58G>A; A20T

PubMed Link: 35971249

Variant Present in the following documents:

• MOL2-16-3689-s005.xlsx, sheet 1

View BVdb publication page

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Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma.

Nature Communications

Sun, Guangxi G; Chen, Junru J; Liang, Jiayu J; Yin, Xiaoxue X; Zhang, Mengni M; Yao, Jin J; He, Ning N; Armstrong, Cameron M CM; Zheng, Linmao L; Zhang, Xingming X; Zhu, Sha S; Sun, Xiaomeng X; Yang, Xiaoxia X; Zhao, Wanbin W; Liao, Banghua B; Pan, Xiuyi X; Nie, Ling L; Yang, Ling L; Chen, Yuntian Y; Zhao, Jinge J; Zhang, Haoran H; Dai, Jindong J; Shen, Yali Y; Liu, Jiyan J; Huang, Rui R; Liu, Jiandong J; Wang, Zhipeng Z; Ni, Yuchao Y; Wei, Qiang Q; Li, Xiang X; Zhou, Qiao Q; Huang, Haojie H; Liu, Zhenhua Z; Shen, Pengfei P; Chen, Ni N; Zeng, Hao H

Publication Date: 2021-09-06

Variant appearance in text: FH: 58G>A; A20T

PubMed Link: 34489456

Variant Present in the following documents:

• 41467_2021_25618_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Current controversies and advances in the management of pancreatic adenocarcinoma.

World Journal Of Gastrointestinal Oncology

Zeeshan, Muhammad Shehroz MS; Ramzan, Zeeshan Z

Publication Date: 2021-06-15

Variant appearance in text: FH: A20T

PubMed Link: 34163568

Variant Present in the following documents:

• WJGO-13-472.pdf

View BVdb publication page

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Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.

Biomed Research International

Meng, Hui H; Jiang, Xuewen X; Cui, Jianfeng J; Yin, Gang G; Shi, Benkang B; Liu, Qi Q; Xuan, He H; Wang, Yu Y

Publication Date: 2020

Variant appearance in text: FH: 58G>A; Ala20Thr

PubMed Link: 33062672

Variant Present in the following documents:

• 2495157.f1.xlsx, sheet 5

View BVdb publication page

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Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A

Publication Date: 2020-11

Variant appearance in text: FH: 58G>A; Ala20Thr; rs572324497

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 8
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Bmc Medical Genetics

Komarova, Tatiana Yu TY; Korneva, Victoria A VA; Kuznetsova, Tatiana Yu TY; Golovina, Alexandra S AS; Vasilyev, Vadim B VB; Mandelshtam, Michail Yu MY

Publication Date: 2013-12-27

Variant appearance in text: FH: 58G>A

PubMed Link: 24373485

Variant Present in the following documents:

• Main text
• 1471-2350-14-128.pdf

View BVdb publication page

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Mitochondrial DNA nucleotide changes in primary congenital glaucoma patients.

Molecular Vision

Kumar, Manoj M; Tanwar, Mukesh M; Faiq, Muneeb Ahmad MA; Pani, Jhumur J; Shamsi, Monis Bilal MB; Dada, Tanuj T; Dada, Rima R

Publication Date: 2013

Variant appearance in text: FH: A20T

PubMed Link: 23401651

Variant Present in the following documents:

• mv-v19-220.pdf

View BVdb publication page

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