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Biallelic variants in coenzyme Q10 biosynthesis pathway gen..:

Jurkute, Neringa ; Cancellieri, Francesca ; Pohl, Lisa...
https://discovery.ucl.ac.uk/id/eprint/10157972/1/Jurkute_Coq10_pathway_NPJ_Genomic_med_2022.pdf. , 2022

Link: https://discovery.ucl.ac.uk/id/eprint/10157972/1/Jurku..

RT Journal
T1 <Title>Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10157972&Exemplar=1&LAN=DE
				
A1 Jurkute, Neringa
A1 Cancellieri, Francesca
A1 Pohl, Lisa
A1 Li, Catherina HZ
A1 Heaton, Robert A
A1 Reurink, Janine
A1 Bellingham, James
A1 Quinodoz, Mathieu
A1 Yioti, Georgia
A1 Stefaniotou, Maria
A1 Weener, Marianna
A1 Zuleger, Theresia
A1 Haack, Tobias B
A1 Stingl, Katarina
A1 Genomics England Research Consortium
A1 Hoyng, Carel B
A1 Mahroo, Omar A
A1 Hargreaves, Iain
A1 Raymond, F Lucy
A1 Michaelides, Michel
A1 Rivolta, Carlo
A1 Kohl, Susanne
A1 Roosing, Susanne
A1 Webster, Andrew R
A1 Arno, Gavin
PB Springer Science and Business Media LLC
YR 2022
K1 Disease genetics
K1 Hereditary eye disease
JF https://discovery.ucl.ac.uk/id/eprint/10157972/1/Jurkute_Coq10_pathway_NPJ_Genomic_med_2022.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10157972/1/Jurkute_Coq10_pathway_NPJ_Genomic_med_2022.pdf
DO https://discovery.ucl.ac.uk/id/eprint/10157972/1/Jurkute_Coq10_pathway_NPJ_Genomic_med_2022.pdf
SF ELIB - SuUB Bremen

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