A new microdeletion syndrome involving TBC1D24, ATP6V0C,...

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Genetics in Medicine 2018 / 9

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

Mucha, Bettina E., Banka, Siddhart, Ajeawung, Norbert Fonya, Molidperee, Sirinart, Chen, Gary G., Koenig, Mary Kay, Adejumo, Rhamat B., Till, Marianne, Harbord, Michael, Perrier, Renee, Lemyre, Emmanu
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Language:
english
Journal:
Genetics in Medicine
DOI:
10.1038/s41436-018-0290-3
Date:
September, 2018
File:
PDF, 577 KB
english, 2018
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