Associated Papers
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.
Zhang X et al.
Molecular Genetics & Genomic Medicine, 2020
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.
Niceta M et al.
Clinical Genetics, 2018
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.
Kessler K et al.
Scientific Reports, 2015
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