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: 137G>A; Ser46Asn

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Lipoprotein metabolism in familial hypercholesterolemia: Serial assessment using a one-step ultracentrifugation method.

Practical Laboratory Medicine

Tada, Hayato H; Kawashiri, Masa-Aki MA; Nohara, Atsushi A; Inazu, Akihiro A; Mabuchi, Hiroshi H; Yamagishi, Masakazu M; Hayashi, Kenshi K

Publication Date: 2015-04-01

Variant appearance in text: FH: 137G>A

PubMed Link: 28932795

Variant Present in the following documents:

• Main text

View BVdb publication page