Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.N1615N
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PKD1

NM_001009944.3:p.N1615N

Associated Papers

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.

Walczak-Sztulpa J et al.

Frontiers in Genetics, 2022

35873489 (PubMed )
Supplement: DataSheet1.docx

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Carrera P et al.

Scientific Reports, 2016

27499327 (PubMed )
Supplement: srep30850-s2.xlsx › Sheet1
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