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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPHP1

Variant:p.K193delFs

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NPHP1

NM_001128178.3:p.K193delFs

hg38:chr2:110168495 TC>T

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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