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PubMed (GeneRIF) for id: 23193

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Novel GANAB variants associated with polycystic liver disease.
van de Laarschot LFM, Te Morsche RHM, Hoischen A, Venselaar H, Roelofs HM, Cnossen WR, Banales JM, Roepman R, Drenth JPH. van de Laarschot LFM, et al. Orphanet J Rare Dis. 2020 Oct 23;15(1):302. doi: 10.1186/s13023-020-01585-4. Orphanet J Rare Dis. 2020. PMID: 33097077 Free PMC article.
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S. Besse W, et al. J Clin Invest. 2017 May 1;127(5):1772-1785. doi: 10.1172/JCI90129. Epub 2017 Apr 4. J Clin Invest. 2017. PMID: 28375157 Free PMC article.
Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Bañales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrézet MP, Ferec C, Le Meur Y, Torres VE; Genkyst Study Group, HALT Progression of Polycystic Kidney Disease Group; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease; Harris PC. Porath B, et al. Am J Hum Genet. 2016 Jun 2;98(6):1193-1207. doi: 10.1016/j.ajhg.2016.05.004. Am J Hum Genet. 2016. PMID: 27259053 Free PMC article.
11 results