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<scp>RNA</scp> sequencing to support intronic variant interpretation: A case report of <scp> TRAPPC12 </scp> ‐related disorder

Authors :
Priya T. Bhola
Aren E. Marshall
Yijing Liang
Madeline Couse
Xueqi Wang
Elka Miller
Chantal F. Morel
Kym M. Boycott
Kristin D. Kernohan
Source :
American Journal of Medical Genetics Part A. 191:1664-1668
Publication Year :
2023
Publisher :
Wiley, 2023.

Subjects

Subjects :
Genetics
Genetics (clinical)

Details

ISSN :
15524833 and 15524825
Volume :
191
Database :
OpenAIRE
Journal :
American Journal of Medical Genetics Part A
Accession number :
edsair.doi...........e865428941bfeb68bb9f46e310a624ee

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Authors Abstract Subjects Details