Publications:

Sudden Cardiac Arrest in a Patient With Mitral Valve Prolapse and LMNA and SCN5A Mutations.

Jacc. Case Reports

Mahajan, Asha M AM; Itan, Yuval Y; Cerrone, Marina M; Horowitz, James J; Borneman, Linda L; Chinitz, Larry L; Jankelson, Lior L

Publication Date: 2021-02

Variant appearance in text: SCN5A: 1556C>T

PubMed Link: 34317510

Variant Present in the following documents:

• Main text
• main.pdf

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Patient-derived cells from recurrent tumors that model the evolution of IDH-mutant glioma.

Neuro-Oncology Advances

Jones, Lindsey E LE; Hilz, Stephanie S; Grimmer, Matthew R MR; Mazor, Tali T; Najac, Chloé C; Mukherjee, Joydeep J; McKinney, Andrew A; Chow, Tracy T; Pieper, Russell O RO; Ronen, Sabrina M SM; Chang, Susan M SM; Phillips, Joanna J JJ; Costello, Joseph F JF

Publication Date: 2020

Variant appearance in text: SCN5A: S519F

PubMed Link: 32904945

Variant Present in the following documents:

• vdaa088_suppl_supplementary_tables.xlsx, sheet 2

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Memory T cells targeting oncogenic mutations detected in peripheral blood of epithelial cancer patients.

Nature Communications

Cafri, Gal G; Yossef, Rami R; Pasetto, Anna A; Deniger, Drew C DC; Lu, Yong-Chen YC; Parkhurst, Maria M; Gartner, Jared J JJ; Jia, Li L; Ray, Satyajit S; Ngo, Lien T LT; Jafferji, Mohammad M; Sachs, Abraham A; Prickett, Todd T; Robbins, Paul F PF; Rosenberg, Steven A SA

Publication Date: 2019-01-25

Variant appearance in text: SCN5A: S519F

PubMed Link: 30683863

Variant Present in the following documents:

• 41467_2019_8304_MOESM6_ESM.xlsx, sheet 1

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Genetic diversity of SCN5A gene and its possible association with the concealed form of Brugada syndrome development in Polish group of patients.

Biomed Research International

Uziębło-Życzkowska, Beata B; Gielerak, Grzegorz G; Siedlecki, Paweł P; Pająk, Beata B

Publication Date: 2014

Variant appearance in text: SCN5A: S519F

PubMed Link: 25401102

Variant Present in the following documents:

• Main text
• BMRI2014-462609.pdf

View BVdb publication page