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Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan, Aliete; Place, Emily; Pierce, Eric A; Comander, Jason.
Afiliação
  • Wan A; Department of Ophthalmology, Ocular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts.
  • Place E; Department of Ophthalmology, Ocular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts.
  • Pierce EA; Department of Ophthalmology, Ocular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts.
  • Comander J; Department of Ophthalmology, Ocular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts.
Hum Mutat ; 40(8): 1127-1144, 2019 08.
Article em En | MEDLINE | ID: mdl-30977563

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Rodopsina / Variação Genética / Sequenciamento de Nucleotídeos em Larga Escala Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Rodopsina / Variação Genética / Sequenciamento de Nucleotídeos em Larga Escala Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article