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- NP529359.RAMfcOVpiaR_8kZwkBN47MaaUiORHkh_gbBc_AVifklfE130_assertion type Assertion NP529359.RAMfcOVpiaR_8kZwkBN47MaaUiORHkh_gbBc_AVifklfE130_head.
- NP529359.RAMfcOVpiaR_8kZwkBN47MaaUiORHkh_gbBc_AVifklfE130_assertion description "[We report an adult woman with atypical BS caused by a homozygous missense mutation, A204T, in the CLCNKB gene, which has previously been described as the apparently unique cause of cBS in Spain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP529359.RAMfcOVpiaR_8kZwkBN47MaaUiORHkh_gbBc_AVifklfE130_provenance.
- NP529359.RAMfcOVpiaR_8kZwkBN47MaaUiORHkh_gbBc_AVifklfE130_assertion evidence source_evidence_literature NP529359.RAMfcOVpiaR_8kZwkBN47MaaUiORHkh_gbBc_AVifklfE130_provenance.
- NP529359.RAMfcOVpiaR_8kZwkBN47MaaUiORHkh_gbBc_AVifklfE130_assertion SIO_000772 16391491 NP529359.RAMfcOVpiaR_8kZwkBN47MaaUiORHkh_gbBc_AVifklfE130_provenance.
- NP529359.RAMfcOVpiaR_8kZwkBN47MaaUiORHkh_gbBc_AVifklfE130_assertion wasDerivedFrom befree-2016 NP529359.RAMfcOVpiaR_8kZwkBN47MaaUiORHkh_gbBc_AVifklfE130_provenance.
- NP529359.RAMfcOVpiaR_8kZwkBN47MaaUiORHkh_gbBc_AVifklfE130_assertion wasGeneratedBy ECO_0000203 NP529359.RAMfcOVpiaR_8kZwkBN47MaaUiORHkh_gbBc_AVifklfE130_provenance.