Varaico: Literature-Extracted Genetic Variants

Gene:NPHP3
Variant:p.M1232_K1233Splc
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NPHP3

NM_153240.5:p.M1232_K1233Splc

Associated Papers

Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.

Li J et al.

Pediatric Nephrology (berlin, Germany), 2023

Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.

Tang X et al.

Journal of Medical Genetics, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."