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A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia.
C Manaspon
S Thaweesapphithak
T Osathanon
K Suphapeetiporn
Thantrira Porntaveetus
V Shotelersuk
Published in:
The British journal of dermatology (2019)
Keyphrases
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copy number
genome wide
genome wide identification