Publications:

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: PGM2L1: R58X

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1

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Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.

American Journal Of Human Genetics

Morava, Eva E; Schatz, Ulrich A UA; Torring, Pernille M PM; Abbott, Mary-Alice MA; Baumann, Matthias M; Brasch-Andersen, Charlotte C; Chevalier, Nathalie N; Dunkhase-Heinl, Ulrike U; Fleger, Martin M; Haack, Tobias B TB; Nelson, Stephen S; Potelle, Sven S; Radenkovic, Silvia S; Bommer, Guido T GT; Van Schaftingen, Emile E; Veiga-da-Cunha, Maria M

Publication Date: 2021-06-03

Variant appearance in text: PGM2L1: 172C>T

PubMed Link: 33979636

Variant Present in the following documents:

• Main text

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