New mutations and an updated database for the patched-1 (PTCH1) gene.
M G H C ReindersAntonius F van HoutBetûl CosgunAimée D PaulussenEdward M LeterPeter M SteijlenKlara MosterdMichel van GeelJohan J GillePublished in: Molecular genetics & genomic medicine (2018)
We have established a locus-specific database for the PTCH1 gene using the Leiden Open Variation Database (LOVD). The database provides an open collection for both clinicians and researchers and is accessible online at http://www.lovd.nl/PTCH1.