Publications:

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: 1310G>C; Gly437Ala

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.

Bmc Medical Genetics

Wang, Dan-Dan DD; Gao, Feng-Juan FJ; Hu, Fang-Yuan FY; Zhang, Sheng-Hai SH; Xu, Ping P; Wu, Ji-Hong JH

Publication Date: 2020-02-10

Variant appearance in text: FH: 1310G>C

PubMed Link: 32039712

Variant Present in the following documents:

• 12881_2020_963_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Genetic Variations Associated with Drug Resistance Markers in Asymptomatic Plasmodium falciparum Infections in Myanmar.

Genes

Zhao, Yan Y; Liu, Ziling Z; Soe, Myat Thu MT; Wang, Lin L; Soe, Than Naing TN; Wei, Huanping H; Than, Aye A; Aung, Pyae Linn PL; Li, Yuling Y; Zhang, Xuexing X; Hu, Yubing Y; Wei, Haichao H; Zhang, Yangminghui Y; Burgess, Jessica J; Siddiqui, Faiza A FA; Menezes, Lynette L; Wang, Qinghui Q; Kyaw, Myat Phone MP; Cao, Yaming Y; Cui, Liwang L

Publication Date: 2019-09-09

Variant appearance in text: FH: G437A

PubMed Link: 31505774

Variant Present in the following documents:

• Main text

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Therapeutic efficacy of artesunate in the treatment of uncomplicated Plasmodium falciparum malaria and anti-malarial, drug-resistance marker polymorphisms in populations near the China-Myanmar border.

Malaria Journal

Huang, Fang F; Tang, Linhua L; Yang, Henglin H; Zhou, Shuisen S; Sun, Xiaodong X; Liu, Hui H

Publication Date: 2012-08-16

Variant appearance in text: FH: G437A

PubMed Link: 22898135

Variant Present in the following documents:

• 1475-2875-11-278.pdf

View BVdb publication page