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Results for the Protein: NP_115711
63478060

PHD finger protein 6 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  BORJESON-FORSSMAN-LEHMANN SYNDROME
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RefSeq Protein: NP_115711
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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 ↕
OMIM300414.0007 Diseasep.ARG258GLYBORJESON-FORSSMAN-LEHMANN SYNDROME
OMIM300414.0002 Diseasep.CYS99PHEBORJESON-FORSSMAN-LEHMANN SYNDROME
OMIM300414.0004 Diseasep.CYS45TYRBORJESON-FORSSMAN-LEHMANN SYNDROME
OMIM300414.0005 Diseasep.HIS230ARGBORJESON-FORSSMAN-LEHMANN SYNDROME
OMIM300414.0003 Diseasep.LYS235GLUBORJESON-FORSSMAN-LEHMANN SYNDROME
OMIM300414.0008 Diseasep.LYS8TERBORJESON-FORSSMAN-LEHMANN SYNDROME
OMIM300414.0006 Diseasep.MET1TYRBORJESON-FORSSMAN-LEHMANN SYNDROME



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