https://www.ncbi.nlm.nih.gov/clinvar/RCV001080843/
NM_152618.3(BBS12):c.116TC (p.Ile39Thr) AND Bardet-Biedl syndrome - ClinVar - NCBI
ClinVar archives and aggregates information about relationships among variation and human health.
https://www.ncbi.nlm.nih.gov/clinvar/RCV000513736/
NM_152618.3(BBS12):c.116TC (p.Ile39Thr) AND not provided - ClinVar - NCBI
ClinVar archives and aggregates information about relationships among variation and human health.