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Results for the Protein: NP_001159399
260064077

Meckel syndrome type 1 protein isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  BARDET-BIEDL SYNDROME 13
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Default View:

B9-C2 - pfam07162




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 ↕
OMIM609883.0006 Diseasep.CYS482TRPBARDET-BIEDL SYNDROME 13



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