Publications:

Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.

Journal Of Cellular And Molecular Medicine

Álvarez-Satta, María M; Castro-Sánchez, Sheila S; Pousada, Guillermo G; Valverde, Diana D

Publication Date: 2017-10

Variant appearance in text: BBS2: 266A>G; Y89C

PubMed Link: 28502102

Variant Present in the following documents:

• JCMM-21-2268.pdf

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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: BBS: 266A>G

PubMed Link: 21157496

Variant Present in the following documents:

• Main text

View BVdb publication page