| Property |
Value |
| Working Groups |
RG Preobraschenski, 
RG Vona |
| Subproject |
A03 |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Unknown |
| PMID |
41092388 |
| DOI |
10.1093/qjmed/hcaf246 |
| Publication Year |
2025 |
| Title |
Uncovering Dual Molecular Diagnoses in Families with Complex Phenotypes through Structural and Clinical Study of Novel COL4A6 Variants |
| Journal |
QJM: An International Journal of Medicine |
| ISSN |
1460-2725 |
| URL |
https://doi.org/10.1093/qjmed/hcaf246 |
| Authors |
Owrang 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 Author |
Owrang D |
| Last Author |
Vona B |
External Resources
academic...46.pdfhttps://academic.oup.com/qjmed/advance-article-pdf/doi/10.1093/qjmed/hcaf246/64712872/hcaf246.pdf Article fulltext
gro-2/152232http://resolver.sub.uni-goettingen.de/purl?gro-2%2F152232= GRO.publications identifier
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)
7955https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=7955 NCBI taxonomy (zebrafish, Danio rerio)
0000-0002-6466-176Xhttps://orcid.org/0000-0002-6466-176X ORCID identifier (Constantin Cretu)
0000-0002-7559-6529https://orcid.org/0000-0002-7559-6529 ORCID identifier (Sheng-Jia Lin)
0000-0002-2512-7812https://orcid.org/0000-0002-2512-7812 ORCID identifier (Kevin Huang)
0000-0002-8229-7519https://orcid.org/0000-0002-8229-7519 ORCID identifier (Nadia K. Waheed)
0000-0002-1825-0433https://orcid.org/0000-0002-1825-0433 ORCID identifier (Julia Preobraschenski)
0000-0002-0429-1904https://orcid.org/0000-0002-0429-1904 ORCID identifier (Gaurav K. Varshney)
0000-0001-5467-5247https://orcid.org/0000-0001-5467-5247 ORCID identifier (Gabriela Elena Oprea)
0000-0002-6719-3447https://orcid.org/0000-0002-6719-3447 ORCID identifier (Barbara Christine Vona)
1268https://prod.mbexc.uni-goettingen.de/literature/publications/1268 Published Data Registry entry (MBExC)
02f99v835https://ror.org/02f99v835 ROR identifier (02f99v835, German Primate Center)
03vek6s52https://ror.org/03vek6s52 ROR identifier (03vek6s52, Harvard University)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
035z6xf33https://ror.org/035z6xf33 ROR identifier (035z6xf33, Oklahoma Medical Research Foundation)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
05bbbc791https://ror.org/05bbbc791 ROR identifier (05bbbc791, University of Karachi)
SCR_006169https://scicrunch.org/resolver/SCR_006169 SciCrunch identifier (RRID:SCR_006169, ClinVar)
SCR_018393https://scicrunch.org/resolver/SCR_018393 SciCrunch identifier (RRID:SCR_018393, Combined Annotation Dependent Depletion)
SCR_002338https://scicrunch.org/resolver/SCR_002338 SciCrunch identifier (RRID:SCR_002338, dbSNP)
SCR_014964https://scicrunch.org/resolver/SCR_014964 SciCrunch identifier (RRID:SCR_014964, Genome Aggregation Database)
SCR_001888https://scicrunch.org/resolver/SCR_001888 SciCrunch identifier (RRID:SCR_001888, HGMD)
SCR_014983https://scicrunch.org/resolver/SCR_014983 SciCrunch identifier (RRID:SCR_014983, Illumina NextSeq 500)
SCR_016707https://scicrunch.org/resolver/SCR_016707 SciCrunch identifier (RRID:SCR_016707, MaxEntScan)
SCR_010777https://scicrunch.org/resolver/SCR_010777 SciCrunch identifier (RRID:SCR_010777, MutationTaster)
SCR_013189https://scicrunch.org/resolver/SCR_013189 SciCrunch identifier (RRID:SCR_013189, PolyPhen)
SCR_012813https://scicrunch.org/resolver/SCR_012813 SciCrunch identifier (RRID:SCR_012813, SIFT)
SCR_015872https://scicrunch.org/resolver/SCR_015872 SciCrunch identifier (RRID:SCR_015872, UCSF ChimeraX)