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: 658G>A; Ala220Thr; rs747135440

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 7
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.

Blood Advances

Marsh, Judith C W JCW; Gutierrez-Rodrigues, Fernanda F; Cooper, James J; Jiang, Jie J; Gandhi, Shreyans S; Kajigaya, Sachiko S; Feng, Xingmin X; Ibanez, Maria Del Pilar F MDPF; Donaires, Flávia S FS; Lopes da Silva, João P JP; Li, Zejuan Z; Das, Soma S; Ibanez, Maria M; Smith, Alexander E AE; Lea, Nicholas N; Best, Steven S; Ireland, Robin R; Kulasekararaj, Austin G AG; McLornan, Donal P DP; Pagliuca, Anthony A; Callebaut, Isabelle I; Young, Neal S NS; Calado, Rodrigo T RT; Townsley, Danielle M DM; Mufti, Ghulam J GJ

Publication Date: 2018-01-09

Variant appearance in text: FH: 658G>A

PubMed Link: 29344583

Variant Present in the following documents:

• Main text

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