Publications:

Homozygous ALS-linked FUS P525L mutations cell- autonomously perturb transcriptome profile and chemoreceptor signaling in human iPSC microglia.

Stem Cell Reports

Kerk, Sze Yen SY; Bai, Yu Y; Smith, Janell J; Lalgudi, Pranav P; Hunt, Charleen C; Kuno, Junko J; Nuara, John J; Yang, Tao T; Lanza, Kathryn K; Chan, Newton N; Coppola, Angel A; Tang, Qian Q; Espert, Jennifer J; Jones, Henderson H; Fannell, Casey C; Zambrowicz, Brian B; Chiao, Eric E

Publication Date: 2022-03-08

Variant appearance in text: PC: P517L

PubMed Link: 35120624

Variant Present in the following documents:

• Main text
• main.pdf
• mmc8.pdf

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: PC: P517L

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

View BVdb publication page