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Results for the Protein: NP_056199
47578107

nipped-B-like protein isoform B [Homo sapiens]

Known Diseases associated with this Protein:
  CORNELIA DE LANGE SYNDROME 1
5
2
5
2
0
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RefSeq Protein: NP_056199
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3822471 Polymorphismp.ASN674SERN/A
dbSNPrs16903425 Polymorphismp.SER261ALAN/A
OMIM608667.0009 Diseasep.ALA1246GLYCORNELIA DE LANGE SYNDROME 1
OMIM608667.0012 Diseasep.ARG1536TERCORNELIA DE LANGE SYNDROME 1
OMIM608667.0008 Diseasep.ARG1723TERCORNELIA DE LANGE SYNDROME 1
OMIM608667.0001 Diseasep.MET1LYSCORNELIA DE LANGE SYNDROME 1
OMIM608667.0002 Diseasep.TYR2430CYSCORNELIA DE LANGE SYNDROME 1



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