Associated Papers
Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Ellingford JM et al.
Genome Medicine, 2022
35850704 (PubMed )
Supplement: 13073_2022_1073_MOESM1_ESM.xlsx › Table_S1
Human Hairless Protein Roles in Skin/Hair and Emerging Connections to Brain and Other Cancers.
Maatough A et al.
Journal of Cellular Biochemistry, 2018
Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review.
Yang J et al.
International Journal of Dermatology, 2014
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
Wen Y et al.
Nature Genetics, 2009
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