Publications:

The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: IFT122: P620L

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

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Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.

Neurogenetics

Elert-Dobkowska, Ewelina E; Stepniak, Iwona I; Krysa, Wioletta W; Ziora-Jakutowicz, Karolina K; Rakowicz, Maria M; Sobanska, Anna A; Pilch, Jacek J; Antczak-Marach, Dorota D; Zaremba, Jacek J; Sulek, Anna A

Publication Date: 2019-03

Variant appearance in text: SPG: 1859C>T

PubMed Link: 30778698

Variant Present in the following documents:

• Main text
• 10048_2019_Article_565.pdf

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