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1 Ergebnisse
1
Inherited and de novo biallelic pathogenic variants in COL1..:
Nixon, Thomas
;
Richards, Allan J
;
Lomas, Adrian
...
https://www.repository.cam.ac.uk/handle/1810/328398. , 2020
Link:
https://www.repository.cam.ac.uk/handle/1810/328398
RT Journal T1
Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss
UL https://suche.suub.uni-bremen.de/peid=base-ftunivcam:oai:www.repository.cam.ac.uk:1810_328398&Exemplar=1&LAN=DE A1 Nixon, Thomas A1 Richards, Allan J A1 Lomas, Adrian A1 Abbs, Stephen A1 Vasudevan, Pradeep A1 McNinch, Annie A1 Alexander, Philip A1 Snead, Martin P PB Wiley; http://dx.doi.org/10.1002/mgg3.1354; Mol Genet Genomic Med YR 2020 K1 Stickler K1 retinal detachment K1 vitreoretinal K1 Adolescent K1 Arthritis K1 Collagen Type XI K1 Connective Tissue Diseases K1 Female K1 Gene Deletion K1 Genes K1 Dominant K1 Hearing Loss K1 Sensorineural K1 Humans K1 Phenotype K1 RNA Splicing JF https://www.repository.cam.ac.uk/handle/1810/328398 LK http://dx.doi.org/https://www.repository.cam.ac.uk/handle/1810/328398 DO https://www.repository.cam.ac.uk/handle/1810/328398 SF ELIB - SuUB Bremen
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