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: 946G>A; Ala316Thr

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1.

Clinical Kidney Journal

Linhares, Natália Duarte ND; Arantes, Rodrigo Rezende RR; Araujo, Stanley Almeida SA; Pena, Sergio D J SDJ

Publication Date: 2018-08

Variant appearance in text: FH: Ala316Thr

PubMed Link: 30090628

Variant Present in the following documents:

• Main text
• sfx130.pdf

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Reducing V3 Antigenicity and Immunogenicity on Soluble, Native-Like HIV-1 Env SOSIP Trimers.

Journal Of Virology

Ringe, Rajesh P RP; Ozorowski, Gabriel G; Rantalainen, Kimmo K; Struwe, Weston B WB; Matthews, Katie K; Torres, Jonathan L JL; Yasmeen, Anila A; Cottrell, Christopher A CA; Ketas, Thomas J TJ; LaBranche, Celia C CC; Montefiori, David C DC; Cupo, Albert A; Crispin, Max M; Wilson, Ian A IA; Ward, Andrew B AB; Sanders, Rogier W RW; Klasse, P J PJ; Moore, John P JP

Publication Date: 2017-08-01

Variant appearance in text: FH: A316T

PubMed Link: 28539451

Variant Present in the following documents:

• Main text
• e00677-17.pdf

View BVdb publication page