Varaico: Literature-Extracted Genetic Variants

Gene:NPHP4
Variant:p.E989K
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NPHP4

NM_015102.5:p.E989K

Associated Papers

Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.

Al-Hamed MH et al.

Human Mutation, 2022

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.

König JC et al.

Kidney International Reports, 2022

36090483 (PubMed )
Supplement: mmc1.pdf

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.

Sallum JMF et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

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