Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations

Location
Deutsche Nationalbibliothek Frankfurt am Main
Extent
1 Online-Ressource.
Language
Englisch

Bibliographic citation
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations ; volume:16 ; number:1 ; day:9 ; month:7 ; year:2024 ; pages:1-15 ; date:12.2024
Genome medicine ; 16, Heft 1 (9.7.2024), 1-15, 12.2024

Creator
Feraudy, Yvan de
Vandroux, Marie
Romero, Norma Beatriz
Schneider, Raphaël
Saker, Safaa
Boland, Anne
Deleuze, Jean-François
Biancalana, Valérie
Böhm, Johann
Laporte, Jocelyn
Contributor
SpringerLink (Online service)

DOI
10.1186/s13073-024-01353-0
URN
urn:nbn:de:101:1-2409262124007.100921167439
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
15.08.2025, 7:38 AM CEST

Data provider

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Associated

  • Feraudy, Yvan de
  • Vandroux, Marie
  • Romero, Norma Beatriz
  • Schneider, Raphaël
  • Saker, Safaa
  • Boland, Anne
  • Deleuze, Jean-François
  • Biancalana, Valérie
  • Böhm, Johann
  • Laporte, Jocelyn
  • SpringerLink (Online service)

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