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Publication
PropertyValue
Working Groups RG Preobraschenski
SubprojectNone
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 41092388
DOIDOI 10.1093/qjmed/hcaf246
Publication Year2025
TitleUncovering Dual Molecular Diagnoses in Families with Complex Phenotypes through Structural and Clinical Study of Novel COL4A6 Variants
JournalQJM-An International Journal of Medicine
ISSN1460-2725
eISSN1460-2393
URL https://doi.org/10.1093/qjmed/hcaf246
Journal AbbreviationQJM-An Int J Med
AuthorsOwrang D, Rad A, Cretu C, Lin S, Mustafa HM, Huang K, Waheed N, Hussain M, Riaz S, Preobraschenski J, Varshney GK, Oprea G, Vona B
First AuthorOwrang D
Last AuthorVona B

 External Resources

 academic...46.pdf  Article fulltext

 9606  NCBI taxonomy (human, Homo sapiens)

 7955  NCBI taxonomy (zebrafish, Danio rerio)

 0000-0002-6466-176X  ORCID identifier (Constantin Cretu)

 0000-0002-7559-6529  ORCID identifier (Sheng-Jia Lin)

 0000-0002-2512-7812  ORCID identifier (Kevin Huang)

 0000-0002-8229-7519  ORCID identifier (Nadia K. Waheed)

 0000-0002-1825-0433  ORCID identifier (Julia Preobraschenski)

 0000-0002-0429-1904  ORCID identifier (Gaurav K. Varshney)

 0000-0001-5467-5247  ORCID identifier (Gabriela Elena Oprea)

 0000-0002-6719-3447  ORCID identifier (Barbara Christine Vona)

 11  Published Data Registry entry (CRC 1690)

 02f99v835  ROR identifier (02f99v835, German Primate Center)

 03vek6s52  ROR identifier (03vek6s52, Harvard University)

 05xy1nn52  ROR identifier (05xy1nn52, Multiscale Bioimaging)

 035z6xf33  ROR identifier (035z6xf33, Oklahoma Medical Research Foundation)

 021ft0n22  ROR identifier (021ft0n22, University Medical Center Göttingen)

 05bbbc791  ROR identifier (05bbbc791, University of Karachi)

 SCR_006169  SciCrunch identifier (RRID:SCR_006169, ClinVar)

 SCR_018393  SciCrunch identifier (RRID:SCR_018393, Combined Annotation Dependent Depletion)

 SCR_002338  SciCrunch identifier (RRID:SCR_002338, dbSNP)

 SCR_014964  SciCrunch identifier (RRID:SCR_014964, Genome Aggregation Database)

 SCR_001888  SciCrunch identifier (RRID:SCR_001888, HGMD)

 SCR_014983  SciCrunch identifier (RRID:SCR_014983, Illumina NextSeq 500)

 SCR_016707  SciCrunch identifier (RRID:SCR_016707, MaxEntScan)

 SCR_010777  SciCrunch identifier (RRID:SCR_010777, MutationTaster)

 SCR_013189  SciCrunch identifier (RRID:SCR_013189, PolyPhen)

 SCR_012813  SciCrunch identifier (RRID:SCR_012813, SIFT)

 SCR_015872  SciCrunch identifier (RRID:SCR_015872, UCSF ChimeraX)

 mbexc.de...iants/  Website entry (mbexc.de)