Event ID![]() ![]() |
Disease: Mental Retardation Syndrome ( DOID![]() |
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Event Information |
Precision: B![]() |
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Chromosome Rearrangement Type: Deletion![]() |
Chromosome: 2 |
Karyotype![]() |
Breakpoints Information: |
Second Breakpoint![]() |
Location: q21.3 |
This breakpoint occurs in intron7 of NM_018328.3. |
Length of Deletion Segment is 200Kb. |
Junction Sequence is Unavailable![]() |
Experimental Method: aCGH, Real time PCR |
Reference Information |
PubMed ID: 17847001 | ||||
Authors: Wagenstaller J,Spranger S,Lorenz-Depiereux B,Kazmierczak B,Nathrath M,Wahl D,Heye B,Glaser D,Liebscher V,Meitinger T,Strom TM | ||||
Journal: American journal of human genetics |
Go to Genome Browser ( Click the image ) |
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