Work

Bi‐allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family

Year: 2021

Type: article

Study design: Case Report

Source: Clinical Genetics

DOI: 10.1111/cge.14053

Authors: Udhaya Kotecha, Mehul Mistri, Nidhi Shah, Parth S. Shah, Vandana A. Gupta

Institutions: Dartmouth College, Dartmouth–Hitchcock Medical Center, Children's Hospital at Dartmouth Hitchcock, Dartmouth Cancer Center, Brigham and Women's Hospital, Harvard 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: Brigham and Women's Hospital

OpenAlex ID: W3195241902

FWCI: 0.988

Cites: 18

Cited by: 9

Related to: 10