Publications:

Dent disease: A window into calcium and phosphate transport.

Journal Of Cellular And Molecular Medicine

Anglani, Franca F; Gianesello, Lisa L; Beara-Lasic, Lada L; Lieske, John J

Publication Date: 2019-11

Variant appearance in text: CFTR: R347X

PubMed Link: 31472005

Variant Present in the following documents:

• JCMM-23-7132.pdf

View BVdb publication page

Genetic and phenotypic traits of children and adolescents with cystic fibrosis in Southern Brazil.

Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia

Rosa, Katiana Murieli da KMD; Lima, Eliandra da Silveira de EDS; Machado, Camila Correia CC; Rispoli, Thaiane T; Silveira, Victória d'Azevedo VD; Ongaratto, Renata R; Comaru, Talitha T; Pinto, Leonardo Araújo LA

Publication Date: 2018

Variant appearance in text: CFTR: R347X

PubMed Link: 30726326

Variant Present in the following documents:

• Main text
• 1806-3713-jbpneu-44-06-00498.pdf

View BVdb publication page