Publications:

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.

International Journal Of Molecular Sciences

Castilla-Vallmanya, Laura L; Gürsoy, Semra S; Giray-Bozkaya, Özlem Ö; Prat-Planas, Aina A; Bullich, Gemma G; Matalonga, Leslie L; Centeno-Pla, Mónica M; Rabionet, Raquel R; Grinberg, Daniel D; Balcells, Susanna S; Urreizti, Roser R

Publication Date: 2021-02-04

Variant appearance in text: CFTR: 3218A>G; Tyr1073Cys

PubMed Link: 33557041

Variant Present in the following documents:

• Main text
• ijms-22-01549.pdf

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The true panel of cystic fibrosis mutations in the Sicilian population.

Bmc Medical Genetics

Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Fichera, Michele M; Venti, Ermanno E; Guglielmino, Antonino A

Publication Date: 2020-05-01

Variant appearance in text: CFTR: Y1073C

PubMed Link: 32357917

Variant Present in the following documents:

• Main text
• 12881_2020_Article_958.pdf

View BVdb publication page