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25 results
  1. ... Variants Database - TGFB3 TGFB3 database TGFB3 TGFB3 TGFBR1 9q22 ​.33 TGF-beta receptor type-1 TGFBR1 database ... Carter NP, Cormier-Daire V, Colleaux L. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a ...
  2. Developmental disabilities can be physical, mental, or both. The problems are usually life-long, but therapy can help. Learn more. ... What are developmental ...
  3. ... type 2 (5q21). Nevoid basal cell carcinoma syndrome (9q22.3). Clinical Features The clinical presentation of various ...
  4. Try ABCDE on a mole to check for signs of skin cancer: Asymmetry, Border, Color, Diameter, Elevation. Learn more on advanced detection and treatments. ...
  5. ... DNA polymerase eta POLH database POLH POLH XPA 9q22 ​.33 DNA repair protein complementing XP-A cells ...
  6. ... Kalscheuer V, Michalova K, Tommerup N. Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation ...
  7. ... Locus Protein Locus-Specific Databases HGMD ClinVar SPTLC1 9q22 ​.31 Serine palmitoyltransferase 1 SPTLC1 @ LOVD SPTLC1 SPTLC1 ...
  8. ... Locus Protein Locus-Specific Databases HGMD ClinVar ROR2 9q22 ​.31 Tyrosine-protein kinase transmembrane receptor ROR2 ROR2 @ ...
  9. ... Fanconi Anaemia Mutation Database (FANCB) FANCB FANCB FANCC 9q22 ​.32 Fanconi anemia group C protein Fanconi Anemia ...
  10. 9q22.3 microdeletion is a chromosomal change in which a small piece of chromosome 9 is deleted ... condition called Gorlin syndrome.Many individuals with a 9q22.3 microdeletion have delayed development, particularly affecting the ...
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