Publications:

SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: SPRY2: T113A

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

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Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.

Clinical Case Reports

Sajan, Samin A SA; Powis, Zöe Z; Helbig, Katherine L KL; Nagakura, Honey H; Immken, Ladonna L; Tang, Sha S; Alcaraz, Wendy A WA

Publication Date: 2018-07

Variant appearance in text: SPRY2: 337A>G; T113A

PubMed Link: 29988648

Variant Present in the following documents:

• CCR3-6-1208-s002.xlsx, sheet 1

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