Publications:

Integrative molecular profiling identifies two molecularly and clinically distinct subtypes of blastic plasmacytoid dendritic cell neoplasm.

Blood Cancer Journal

Künstner, Axel A; Schwarting, Julian J; Witte, Hanno M HM; Bernard, Veronica V; Stölting, Stephanie S; Kusch, Kathrin K; Nagarathinam, Kumar K; von Bubnoff, Nikolas N; Murga Penas, Eva Maria EM; Merz, Hartmut H; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N

Publication Date: 2022-07-04

Variant appearance in text: GLA: P98L

PubMed Link: 35788129

Variant Present in the following documents:

• 41408_2022_699_MOESM3_ESM.xlsx, sheet 1

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: P98L

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Ocular manifestations in a patient with de novo Fabry disease.

Yeungnam University Journal Of Medicine

Lee, You Hyun YH; Shim, Kyu Young KY; Park, Sung Bae SB; Kim, Yu Cheol YC

Publication Date: 2018-12

Variant appearance in text: GLA: 293C>T

PubMed Link: 31620600

Variant Present in the following documents:

• Main text
• yujm-2018-35-2-232.pdf

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