A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)

Autosomal recessive whole gene deletions of nephrocystin-1 (NPHP1) result in abnormal structure and function of the primary cilia. These deletions can result in a tubulointerstitial kidney disease known as nephronophthisis and retinal (Senior–Løken syndrome) and neurological (Joubert syndrome) disea...

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Detalles Bibliográficos
Autores principales: Leggatt, Gary, Cheng, Guo, Narain, Sumit, Briseño-Roa, Luis, Annereau, Jean-Philippe, Gast, Christine, Gilbert, Rodney D., Ennis, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10256716/
https://www.ncbi.nlm.nih.gov/pubmed/37296294
http://dx.doi.org/10.1038/s41598-023-32169-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10256716/
https://www.ncbi.nlm.nih.gov/pubmed/37296294
http://dx.doi.org/10.1038/s41598-023-32169-4

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