Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia

Tariq M, Khan TN, Lundin L, Jameel M, Lönnerholm T, Baig SM, Dahl N, Klar J

Clin Genet 93 (1) 182-186 [2018-01-00; online 2017-11-21]

Bioinformatics Compute and Storage [Service]

NGI Uppsala (Uppsala Genome Center) [Service]

QC bibliography QC xrefs

PubMed 28685811

DOI 10.1111/cge.13091

Crossref 10.1111/cge.13091