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Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants
PURPOSE: Genetic variation in MC1R is a main determinant of red hair color (RHC) phenotype which confers susceptibility to skin disorders. METHODS: We assessed the effects and function of MC1R variants identified in our clinical cohort of 135,947 participants with available exome sequencing using ph...
Autores principales: | Moore, Bryn S., Luo, Jonathan Z., Stepanchick, Ann N., Mirshahi, Tooraj |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633122/ https://www.ncbi.nlm.nih.gov/pubmed/34326492 http://dx.doi.org/10.1038/s41436-021-01284-w |
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