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SNP information rs41273726

RS41273726

Normal allele: TT

PKHD1 mutation increases the risk of autosomal recessive polycystic kidney disease (ARPKD).

Polymorphism rs41273726 is related to topics like this:

Adpkd kidney disease

The most prevalent type of PKD is Autosomal dominant polycystic kidney disease (ADPKD). This...

Research and publications:

  15108277   PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

  15698423   Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

  15805161   Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

  16133180   Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

  19914852   PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.

  21228398   Carrier testing for severe childhood recessive diseases by next-generation sequencing.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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