The Importance of Familial Co‐segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease
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Authors
- João Paulo Oliveira (ORCID: https://orcid.org/0000-0002-5016-1967)
- Susana Fernandes (ORCID: https://orcid.org/0000-0003-1128-833X)
- A Vasconcelos (ORCID: https://orcid.org/0000-0002-9423-956X)
- Liliana Rocha
Institutions
- Universidade do Porto (PT)
- Hospital de São João (PT)
- i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto (PT)
Publication Details
- Journal
- American Journal of Medical Genetics Part A
- Published
- 2026-09-06
- DOI
- https://doi.org/10.1002/ajmg.a.70298
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00