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alpha-thalassemia/mental retardation syndrome
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ATRX
XNP mutation in a large family with Juberg-Marsidi syndrome
Normalization and subtraction: two approaches to facilitate gene discovery
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome
A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia
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ATRX
Somatic tumors
pancreatic neuroendocrine tumours, paediatric GBM
Tumor types germline
Cancer Syndrom
Translocation partner
Name
alpha thalassemia/mental retardation syndrome X-linked
Chromosome banding
Xq21.1
Cancer molecular gen.
Rec
Mutation type
Mis, F, N
Other syndrome disease
ATR-X (alpha thalassemia/mental retardation) syndrome