Work

Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population

Year: 2019

Type: article

Source: European Journal of Medical Genetics

DOI: 10.1016/j.ejmg.2019.03.007

Authors: Karin Weiss, Nina Ekhilevitch, Lior Cohen, Sharon Bratman-Morag, Rachel Bello, Ariel F. Martinez, Yarin Hadid, Liran I. Shlush, Alina Kurolap, Tamar Paperna, Adi Mory, Hagit N. Baris, Maximilian Muenke

Institutions: National Institutes of Health, Rambam Health Care Campus, National Human Genome Research Institute, Technion – Israel Institute of Technology, Tel Aviv University, Schneider Children's Medical Center, Bnai Zion Medical Center, Weizmann Institute of Science

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: National Institutes of Health, National Human Genome Research Institute

OpenAlex ID: W2924758016

FWCI: 0.751

Cites: 12

Cited by: 8

Related to: 10