Work

Recurrent FLNA p.Gly1554Arg Variant Associated With Familial Ebstein Anomaly and Joint Stiffness

Year: 2024

Type: article

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.63973

Authors: Yukiko Kuroda, Koki Nagai, Yasuhiro Kawai, Takuya Wakamiya, Takuya Naruto, Kenji Kurosawa

Institution: Kanagawa Children's Medical Center

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Japan Agency for Medical Research and Development, Ministry of Health, Labour and Welfare, Japan Society for the Promotion of Science

Award: The elucidation of genetic disorders due to 5-UTR variant

OpenAlex ID: W4405645291

FWCI:

Cites: 11

Cited by:

Related to: 10