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The New England Journal of Medicine, ISSN 0028-4793, 03/2014, Volume 370, Issue 10, pp. 921 - 931
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 05/2009, Volume 360, Issue 19, pp. 1960 - 1970
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2014, Volume 9, Issue 3, pp. e90879 - e90879
The development of the mammalian kidney is a highly complex process dependent upon the interplay of various cell types, secreted morphogens, and the... 
Integrin alpha3 - genetics | Humans | Kidney - growth & development | Nephrotic Syndrome - genetics | Integrin alpha3 - metabolism | Protein Transport | Epidermolysis Bullosa - genetics | Lung Diseases - genetics | Phenotype | Animals | Gene Expression Regulation, Developmental | Adult | Mice | Mutation | Index Medicus
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The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 257 - 266
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 1065 - 1072
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The New England Journal of Medicine, ISSN 0028-4793, 07/2013, Volume 369, Issue 1, pp. 54 - 65
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The New England Journal of Medicine, ISSN 0028-4793, 12/2002, Volume 347, Issue 26, pp. 2111 - 2121
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2019, Volume 179, Issue 10, pp. 2112 - 2118
Generalized arterial calcifications of infancy (GACI) is caused by mutations in ENPP1 . Other ENPP1 ‐related phenotypes include pseudoxanthoma elasticum,... 
WES | ENPP1 | generalized arterial calcifications of infancy | Thrombocytopenia | Phenotypes | Liver | Central nervous system | Hypoglycemia | Mimicry | Congenital infection | Rickets | Etiology | Hypophosphatemia | Children | Mutation | Diagnosis | Index Medicus
Journal Article