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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Krepischi-Santos A C V, Vianna-Morgante A M.: Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9. AJMG 117A:41-46, 2003. [PubMed: 12548739]Patients 1 & 2=46,XY,dir dup(9)(p12->p24.3).,Patient 3= 46,XX,inv dup(9p)(centromeric sequences->YAC D9S429Patient 1 was 6 10/12 years old with MR and dysmorphic features.,Patient 2 was 9 years old with MR and dysmorphic features.,Patient 3 was 16 years old with MR, dysmorphic features and had not developed speech.Aberration: DuplicationChromosomal Aneuploidy: 9p+
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- PREDICTED: Homo sapiens NEDD4 binding protein 2 (N4BP2), transcript variant X6, ...PREDICTED: Homo sapiens NEDD4 binding protein 2 (N4BP2), transcript variant X6, mRNAgi|2217351422|ref|XM_047415955.1|Nucleotide
- Chain C, PROTEIN S100-A12Chain C, PROTEIN S100-A12gi|241913119|pdb|2WCF|CProtein
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