Varaico: Literature-Extracted Genetic Variants

Gene:NPHP3
Variant:p.M1190_G1191Splc
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NPHP3

NM_153240.5:p.M1190_G1191Splc

Associated Papers

Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.

Lord J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.

König JC et al.

Kidney International Reports, 2022

36090483 (PubMed )
Supplement: mmc1.pdf
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