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Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts

J-H Chen, T Geberhiwot, TG Barrett, R Paisey, RK Semple

OAI: oai:www.repository.cam.ac.uk:1810/266737 • DOI: 10.17863/CAM.12809

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Abstract

ALMS1 Alström syndrome Cilia Gene Expression genotype–phenotype correlation nonsense‐mediated decay