A novel NPHP1 gene variant in combination with a gene deletion at the compound heterozygous state in a patient with Nephronophthisis

Amal Abd Mouleh,Syrine Hizem,Imen Rejeb,Molka Sebai, Sana Karoui,Houweyda Jilani, Manel Laajimi, Sami Jebnoun,Lamia BenJemaa

EUROPEAN JOURNAL OF HUMAN GENETICS(2023)

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