PurposeRPGR is the most common cause of X-linked retinitis pigmentosa (RP), of which female carriers are also frequently affected. The aim of the current study was to explore the RPGR variation spectr
Additional file 11: Table S7. List of whole-genome sequence variants present in at least one Leonberger dog in the 113 selected genes showing genotypes of all 653 available genomes. SNVs present in po
Xeroderma Pigmentosum C (XPC) is a multi-functional protein that is involved not only in the repair of bulky lesions, post-irradiation, via nucleotide excision repair (NER) per se but also in oxidativ
1Mild pigmentation was observed. 2Cerebellar hypoplasia was confirmed by imaging. 3History of major difficulties in swallowing solid food; not confirmed by imaging.
