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: 167C>A; Thr56Asn

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution.

Nature Communications

Kircher, Martin M; Xiong, Chenling C; Martin, Beth B; Schubach, Max M; Inoue, Fumitaka F; Bell, Robert J A RJA; Costello, Joseph F JF; Shendure, Jay J; Ahituv, Nadav N

Publication Date: 2019-08-08

Variant appearance in text: FH: 167C>A

PubMed Link: 31395865

Variant Present in the following documents:

• 41467_2019_11526_MOESM1_ESM.pdf

View BVdb publication page