Varaico: Literature-Extracted Genetic Variants

Gene:NPHP4
Variant:p.R950Q
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NPHP4

NM_015102.5:p.R950Q

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_2.pdf

Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis.

Aypek H et al.

Renal Failure, 2025

41032671 (PubMed )
Supplement: IRNF_A_2547306_SM0962.docx

Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Mansilla MA et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021

A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly.

Wang T et al.

Frontiers in Pediatrics, 2021

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