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Year | Number of Results |
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1983 | 1 |
1996 | 1 |
2016 | 1 |
2018 | 1 |
2024 | 0 |
PubMed (cited) for id: 104160
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A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family.
Hum Mutat. 2018 Mar;39(3):378-382. doi: 10.1002/humu.23383. Epub 2018 Jan 24.
Hum Mutat. 2018.
PMID: 29243290
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.
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Endoplasmic reticulum glucosidase II is composed of a catalytic subunit, conserved from yeast to mammals, and a tightly bound noncatalytic HDEL-containing subunit.
Trombetta ES, Simons JF, Helenius A.
Trombetta ES, et al.
J Biol Chem. 1996 Nov 1;271(44):27509-16. doi: 10.1074/jbc.271.44.27509.
J Biol Chem. 1996.
PMID: 8910335
Free article.
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Assignment of the gene for neutral alpha-glucosidase AB to chromosome 11.
Martiniuk F, Smith M, Ellenbogen A, Desnick RJ, Astrin K, Mitra J, Hirschhorn R.
Martiniuk F, et al.
Cytogenet Cell Genet. 1983;35(2):110-6. doi: 10.1159/000131851.
Cytogenet Cell Genet. 1983.
PMID: 6342981
No abstract available.
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