BBS2 c.599_604del ;(p.M200_E202delinsK)

Variant ID: 16-56543877-TCTGTCA-T

NM_031885.3(BBS2):c.599_604del;(p.M200_E202delinsK)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

American Journal Of Human Genetics
Mykytyn, Kirk K; Nishimura, Darryl Y DY; Searby, Charles C CC; Beck, Gretel G; Bugge, Kevin K; Haines, Heidi L HL; Cornier, Alberto S AS; Cox, Gerald F GF; Fulton, Anne B AB; Carmi, Rivka R; Iannaccone, Alessandro A; Jacobson, Samuel G SG; Weleber, Richard G RG; Wright, Alan F AF; Riise, Ruth R; Hennekam, Raoul C M RC; Lüleci, Güven G; Berker-Karauzum, Sibel S; Biesecker, Leslie G LG; Stone, Edwin M EM; Sheffield, Val C VC
Publication Date: 2003-02

Variant appearance in text: BBS: 599_604del
PubMed Link: 12524598
Variant Present in the following documents:
  • Main text
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