Work

A Rare Missense Variant in TNPO2 in an Individual With a Neurodevelopmental Disability

Year: 2025

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmga.70000

Authors: Ryan Cohen, Mythily Ganapathi, Alban Ziegler, Alexa Geltzeiler, Wendy K. Chung

Institutions: Columbia University Irving Medical Center, Boston Children's Hospital, Harvard University

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: National Institutes of Health, National Institute on Aging

Awards: G3964304249, Brief Research In Aging and Interdisciplinary Neurosciences (BRAIN)

OpenAlex ID: W4416776243

FWCI:

Cites: 21

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