Publications:

Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Signal Transduction And Targeted Therapy

Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y

Publication Date: 2021-02-10

Variant appearance in text: FH: Gly166Glu

PubMed Link: 33563892

Variant Present in the following documents:

• 41392_2020_412_MOESM7_ESM.xlsx, sheet 1

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Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B.

Endocrine Connections

Cardot Bauters, Catherine C; Leteurtre, Emmanuelle E; Carnaille, Bruno B; Do Cao, Christine C; Espiard, Stéphanie S; Penven, Malo M; Destailleur, Evelyne E; Szuster, Isabelle I; Lovecchio, Tonio T; Leclerc, Julie J; Frénois, Fredéric F; Esquivel, Emmanuel E; Dahia, Patricia L M PLM; Ait-Yahya, Emilie E; Crépin, Michel M; Pigny, Pascal P

Publication Date: 2020-10

Variant appearance in text: FH: 497G>A; G166D

PubMed Link: 33112832

Variant Present in the following documents:

• Main text
• EC-20-0460.pdf

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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: 497G>A; Gly166Glu

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4

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C3 Glomerulopathy: Ten Years' Experience at Mayo Clinic.

Mayo Clinic Proceedings

Ravindran, Aishwarya A; Fervenza, Fernando C FC; Smith, Richard J H RJH; De Vriese, An S AS; Sethi, Sanjeev S

Publication Date: 2018-08

Variant appearance in text: FH: 497G>A

PubMed Link: 30077216

Variant Present in the following documents:

• Main text

View BVdb publication page