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A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract

A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract.

Jones JL, Corbett MA, Yeaman E, Zhao D, Gecz J, Gasperini RJ, Charlesworth JC, Mackey DA, Elder JE, Craig JE, Burdon KP.

Eur J Hum Genet. 2021 Apr 19. doi: 10.1038/s41431-021-00889-8. Online ahead of print.

PMID: 33867527

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