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P.A. Terhal
P.A. Terhal
externalperson
https://iisg.amsterdam/resource/pure/external-persons/fd6e8ca5-0d0b-49f1-9d75-6dd21734fca7
2c57fadcce514da3826b63ef96771771
43483bbda7624a05b5f894366cdb8baa
61ff5b615ea041ae8dbc25f992271473
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Discovery of variants unmasked by hemizygous deletions
Dominant missense mutations in ABCC9 cause Cantu syndrome
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face
author
P.A. Terhal
externalperson
https://iisg.amsterdam/resource/pure/external-persons/fd6e8ca5-0d0b-49f1-9d75-6dd21734fca7
type
externalperson
label
P.A. Terhal
http://www.w3.org/2001/XMLSchema#string
firstName
P.A.
http://www.w3.org/2001/XMLSchema#string
lastName
Terhal
http://www.w3.org/2001/XMLSchema#string