Publication
Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB, Clinical application of exome sequencing in undiagnosed genetic conditions Journal of medical genetics49:353-61 2012 |
PubMed ID: 22581936 |
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Records Return:
(3)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM25341 | Female | 33 YR | 3199 | mother | CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | GM |
GM25340 | Male | 6 YR | 3199 | proband | CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | GM |
GM25342 | Male | 32 YR | 3199 | father | CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | GM |
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