First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel variant c.118G>C p.(Glu40Gln)
Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most missense mutations located on the DNMT3A functional domains. Autosomal d...
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| Main Authors: | , , |
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| Format: | Book |
| Published: |
Korean Society of Pediatric Endocrinology,
2019-12-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |