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Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.
Biji, Ishpreet K; Yadav, Siddharth; Kulshrestha, Samarth; Saxena, Renu; Kohli, Sudha; Verma, I C; Kumar, Benu; Puri, Ratna Dua.
Afiliação
  • Biji IK; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Delhi, 110060, India; Amity Institute of Biotechnology, Amity University Uttar Pradesh, Noida, 201313, India.
  • Yadav S; Amity Institute of Biotechnology, Amity University Uttar Pradesh, Noida, 201313, India.
  • Kulshrestha S; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Delhi, 110060, India.
  • Saxena R; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Delhi, 110060, India.
  • Kohli S; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Delhi, 110060, India.
  • Verma IC; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Delhi, 110060, India.
  • Kumar B; Amity Institute of Biotechnology, Amity University Uttar Pradesh, Noida, 201313, India.
  • Puri RD; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Delhi, 110060, India. Electronic address: ratnadpuri@yahoo.com.
Eur J Med Genet ; 65(10): 104595, 2022 Oct.
Article em En | MEDLINE | ID: mdl-36007841
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Biologia Computacional Tipo de estudo: Prognostic_studies / Qualitative_research Limite: Female / Humans / Pregnancy Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Índia
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Biologia Computacional Tipo de estudo: Prognostic_studies / Qualitative_research Limite: Female / Humans / Pregnancy Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Índia