Associated Papers
Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.
Xing Y et al.
Plos Neglected Tropical Diseases, 2020
33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Cuvertino S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31949313 (PubMed )
Supplement: 41436_2019_743_MOESM1_ESM.docx
Select a paper to view details