Work

RNA sequencing combining with whole exome sequencing reveals a compound heterozygous variant in ATM in a girl with atypical ataxia-telangiectasia

Year: 2021

Type: article

Study design: Case Report

Source: Clinica Chimica Acta

DOI: 10.1016/j.cca.2021.08.026

Authors: Chunyu Gu, Hong Wang, Jianbo Shu, Jie Zheng, Dong Li, Chunquan Cai, Peiyuan Zhang

Institutions: Tianjin University, Tianjin Children's Hospital, Tianjin Medical University

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

Funder: National Natural Science Foundation of China

OpenAlex ID: W3196973140

FWCI: 0.251

Cites: 12

Cited by: 4

Related to: 10