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Analytes
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Disease
Laboratory
Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome (hot spot mutation - m.8993T>C/G)
MT-ATP6
NARP syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Autoimmune lymphoproliferative syndrome
FASLG
Autoimmune lymphoproliferative syndrome
Centrum Menselijke Erfelijkheid - KUL
Autoimmune lymphoproliferative syndrome type 1A
FAS
Autoimmune lymphoproliferative syndrome
Centrum Menselijke Erfelijkheid - KUL
Leri-Weill dyschondrosteosis / SHOX-related short stature
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centrum Medische Genetica - UZ Gent
Leri-Weill dyschondrosteosis / SHOX-related short stature
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leri-Weill dyschondrosteosis / SHOX-related short stature
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centrum Medische Genetica - UZ Antwerpen
Leri-Weill dyschondrosteosis / ISS
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centre de Génétique Humaine - CHU Sart-Tilman
Swachman-Bodian-Diamond syndrome
SBDS
Shwachman-Diamond syndrome
Centrum Menselijke Erfelijkheid - KUL
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