Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function

Myers, S. J., Yuan, H., Perszyk, R. E., Zhang, J., Kim, S., Nocilla, K. A., Allen, J. P., Bain, J. M., Lemke, J. R., Lal, D., Benke, T. A., & Traynelis, S. F. (2023). Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function. Human Molecular Genetics, 32(19), 2857–2871. https://doi.org/10.1093/hmg/ddad104

Authors:

Scott J. Myers

Hongjie Yuan

Riley E. Perszyk

Jing Zhang

Sukhan Kim

Kelsey A. Nocilla

James P. Allen

Jennifer M. Bain

Johannes R. Lemke

Dennis Lal

Timothy A. Benke

Stephen F. Traynelis

Affiliated Authors:

Jennifer M. Bain

Columbia Affiliation:

Vagelos College of Physicians and Surgeons
- Department of Neurology
  Division of Child Neurology
- Department of Pediatrics
  Division of Critical Care and Hospital Medicine

Subjects:

Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)

Ribosome Structure and Translation Mechanisms (OpenAlex Topic)

Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)

Nervous System Diseases (MeSH)

Receptors, N-Methyl-D-Aspartate (MeSH)

Publication Type:

Article

Unique ID:

10.1093/hmg/ddad104

PMID:

DOI:

10.1093/hmg/ddad104

Journal:

Human Molecular Genetics

Publication Date:

2023-10-01

Data Source:

Scopus

Source Link:

View Scopus Record

View PubMed Record

View OpenAlex Record

Record Created:

Monday, August 5, 2024 - 12:08