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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...
Autores principales: | Al-Hamed, Mohamed H., Sayer, John A., Alsahan, Nada, Edwards, Noel, Ali, Wafaa, Tulbah, Maha, Imtiaz, Faiqa |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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 |
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