SI c.2521_2522insAG ;(p.I841Kfs*19)

Variant ID: 3-164751226-A-ACT

NM_001041.3(SI):c.2521_2522insAG;(p.I841Kfs*19)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Human Genetics
Janssen, Sabine S; Ramaswami, Gokul G; Davis, Erica E EE; Hurd, Toby T; Airik, Rannar R; Kasanuki, Jennifer M JM; Van Der Kraak, Lauren L; Allen, Susan J SJ; Beales, Philip L PL; Katsanis, Nicholas N; Otto, Edgar A EA; Hildebrandt, Friedhelm F
Publication Date: 2011-01

Variant appearance in text: SI: 2521_2522insAG
PubMed Link: 21052717
Variant Present in the following documents:
  • Main text
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