A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.
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A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.
description
2017 nî lūn-bûn
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name
A novel splice site variant in ...... genital adrenal insufficiency.
@en
A novel splice site variant in ...... genital adrenal insufficiency.
@nl
type
label
A novel splice site variant in ...... genital adrenal insufficiency.
@en
A novel splice site variant in ...... genital adrenal insufficiency.
@nl
prefLabel
A novel splice site variant in ...... genital adrenal insufficiency.
@en
A novel splice site variant in ...... genital adrenal insufficiency.
@nl
P2093
P2860
P50
P356
P1476
A novel splice site variant in ...... ngenital adrenal insufficiency
@en
P2093
Alexander Perdomo-Pantoja
Montserrat Lara-Velazquez
Thomas R Caulfield
P2860
P304
P356
10.1002/MGG3.322
P577
2017-07-20T00:00:00Z