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Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract

The use of next-generation sequencing (NGS) has helped in identifying many genes that cause congenital anomalies of the kidney and urinary tract (CAKUT). Bilateral renal agenesis (BRA) is the most severe presentation of CAKUT, and its association with autosomal recessively inherited genes is expandi...

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Detalles Bibliográficos
Autores principales: Al-Hamed, Mohamed H., Sayer, John A., Alsahan, Nada, Edwards, Noel, Ali, Wafaa, Tulbah, Maha, Imtiaz, Faiqa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601797/
https://www.ncbi.nlm.nih.gov/pubmed/36292572
http://dx.doi.org/10.3390/genes13101687