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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPHP4

Variant:p.A678delFs

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NPHP4

NM_015102.5:p.A678delFs

hg38:chr1:5904724 GT>G

Associated Papers

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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