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Alpha-1-antitrypsin deficiency (2 hot sopt mutations / p.Glu366Lys; p.Glu288Val )
SERPINA1
Alpha-1-antitrypsin deficiency
Centrum Menselijke Erfelijkheid - KUL
Alpha-1-antitrypsin deficiency (hot spot mutations - p.Glu342Lys (allele PI-Z), p. Glu264Val (allele PI-S))
SERPINA1
Alpha-1-antitrypsin deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Macrozoospermia (AURKC gene)
AURKC
Male infertility due to large-headed multiflagellar polyploid spermatozoa
Centrum Medische Genetica - UZ Brussel VUB
Combined pituitary hormone deficiency 2 (CPHD - PROP1 gene)
PROP1
Combined pituitary hormone deficiencies, genetic forms
Centrum Medische Genetica - UZ Brussel VUB
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