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Year | Number of Results |
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1999 | 1 |
2002 | 2 |
2016 | 1 |
2017 | 1 |
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Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
Mol Med. 1999 Dec;5(12):806-11.
Mol Med. 1999.
PMID: 10666480
Free PMC article.
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.
Shabbeer J, Yasuda M, Luca E, Desnick RJ.
Shabbeer J, et al.
Mol Genet Metab. 2002 May;76(1):23-30. doi: 10.1016/s1096-7192(02)00012-4.
Mol Genet Metab. 2002.
PMID: 12175777
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Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
Germain DP, Shabbeer J, Cotigny S, Desnick RJ.
Germain DP, et al.
Mol Med. 2002 Jun;8(6):306-12.
Mol Med. 2002.
PMID: 12428061
Free PMC article.
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Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X, Ouyang Y, Wang Z, Ren H, Shen P, Wang W, Xu Y, Ni L, Yu X, Chen X, Zhang W, Yang L, Li X, Xu J, Chen N.
Pan X, et al.
PLoS One. 2016 Aug 25;11(8):e0161330. doi: 10.1371/journal.pone.0161330. eCollection 2016.
PLoS One. 2016.
PMID: 27560961
Free PMC article.
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S.
Nykamp K, et al.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
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