TG c.1678del ;(p.E560Rfs*36)

Variant ID: 8-133899295-AG-A

NM_003235.4(TG):c.1678del;(p.E560Rfs*36)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

European Journal Of Human Genetics : Ejhg
Pereiro, Ines I; Hoskins, Bethan E BE; Marshall, Jan D JD; Collin, Gayle B GB; Naggert, Jürgen K JK; Piñeiro-Gallego, Teresa T; Oitmaa, Eneli E; Katsanis, Nicholas N; Valverde, Diana D; Beales, Philip L PL
Publication Date: 2011-04

Variant appearance in text: TG: 1678delG
PubMed Link: 21157496
Variant Present in the following documents:
  • Main text
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