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: 512G>A; Ser171Asn

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

Host-selected mutations converging on a global regulator drive an adaptive leap towards symbiosis in bacteria.

Elife

Sabrina Pankey, M M; Foxall, Randi L RL; Ster, Ian M IM; Perry, Lauren A LA; Schuster, Brian M BM; Donner, Rachel A RA; Coyle, Matthew M; Cooper, Vaughn S VS; Whistler, Cheryl A CA

Publication Date: 2017-04-27

Variant appearance in text: FH: S171N

PubMed Link: 28447935

Variant Present in the following documents:

• elife-24414.pdf

View BVdb publication page

Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.

Scientifica

Chaturvedi, Swati S; Singh, Ashok K AK; Keshari, Amit K AK; Maity, Siddhartha S; Sarkar, Srimanta S; Saha, Sudipta S

Publication Date: 2016

Variant appearance in text: FH: S171N

PubMed Link: 27051561

Variant Present in the following documents:

• Main text
• SCIENTIFICA2016-9828672.pdf

View BVdb publication page