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Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants.
Penon, Monica; Zahed, Hengameh; Berger, Victoria; Su, Irene; Shieh, Joseph T.
Affiliation
  • Penon M; Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, San Francisco, California.
  • Zahed H; Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, San Francisco, California.
  • Berger V; Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, San Francisco, California.
  • Su I; Department of Obstetrics, Gynecology and Reproductive Science, University of California San Francisco, San Francisco, California.
  • Shieh JT; Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, San Francisco, California.
Mol Genet Genomic Med ; 6(5): 722-727, 2018 09.
Article in En | MEDLINE | ID: mdl-30047259
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pedigree / Mutation, Missense / Myopathies, Structural, Congenital / Protein Tyrosine Phosphatases, Non-Receptor / High-Throughput Nucleotide Sequencing / Exome Limits: Adult / Female / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2018 Document type: Article Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pedigree / Mutation, Missense / Myopathies, Structural, Congenital / Protein Tyrosine Phosphatases, Non-Receptor / High-Throughput Nucleotide Sequencing / Exome Limits: Adult / Female / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2018 Document type: Article Country of publication: