A restricted spectrum of missense KMT2D variants cause a...

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Genetics in Medicine 2020 / 1

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

Cuvertino, Sara, Hartill, Verity, Colyer, Alice, Garner, Terence, Nair, Nisha, Al-Gazali, Lihadh, Canham, Natalie, Faundes, Victor, Flinter, Frances, Hertecant, Jozef, Holder-Espinasse, Muriel, Jackso
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Language:
english
Journal:
Genetics in Medicine
DOI:
10.1038/s41436-019-0743-3
Date:
January, 2020
File:
PDF, 1.53 MB
english, 2020
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