Cryptic mutations of PLC family members in brain disorders: recent discoveries and a deep-learning-based approach.

Lim, Key-Hwan; Yang, Sumin; Kim, Sung-Hyun; Ko, Euiseong; Kang, Mingon; Joo, Jae-Yeol

Lim, Key-Hwan; Yang, Sumin; Kim, Sung-Hyun; Ko, Euiseong; Kang, Mingon; Joo, Jae-Yeol.

Lim KH; Neurodegenerative Disease Research Group, Korea Brain Research Institute, Daegu 41062, Republic of Korea.
Yang S; Department of Pharmacy, College of Pharmacy, Chungbuk National University, Cheongju-si 28160, Republic of Korea.
Kim SH; Department of Pharmacy, College of Pharmacy, Hanyang University, Ansan, Gyeonggi-do 15588, Republic of Korea.
Ko E; Department of Pharmacy, College of Pharmacy, Hanyang University, Ansan, Gyeonggi-do 15588, Republic of Korea.
Kang M; Department of Computer Science, University of Nevada, Las Vegas, NV 89154, USA.
Joo JY; Department of Computer Science, University of Nevada, Las Vegas, NV 89154, USA.

Brain ; 146(4): 1267-1280, 2023 04 19.

Article en En | MEDLINE | ID: mdl-36448305

Asunto(s)

Encefalopatías; Aprendizaje Profundo; Humanos; Fosfolipasas de Tipo C/genética; Fosfolipasas de Tipo C/metabolismo; Fosfoinositido Fosfolipasa C/genética; Fosfoinositido Fosfolipasa C/metabolismo; Fosfatidilinositoles/metabolismo; Mutación/genética

Palabras clave

PLCs; brain disorders; deep learning; genetic variation; high-throughput analysis

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías / Aprendizaje Profundo Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías / Aprendizaje Profundo Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article