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Results for the Protein: NP_542776
18152769

ectodysplasin-A receptor-associated adapter protein isoform B [Homo sapiens]

Known Diseases associated with this Protein:
  DOMINANT
  ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL
  ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL
  RECESSIVE
2
0
2
0
0
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Death - pfam00531


RefSeq Protein: NP_542776
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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 ↕
OMIM606603.0001 Diseasep.GLU132LYSECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||RECESSIVE
OMIM606603.0002 Diseasep.LEU102ARGECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||DOMINANT



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