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Q48490299-A708EFEF-B764-4C08-B1A9-6A367324C385
Q48490299-A708EFEF-B764-4C08-B1A9-6A367324C385
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http://www.wikidata.org/entity/statement/Q48490299-A708EFEF-B764-4C08-B1A9-6A367324C385
Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.
P2860
Q48490299-A708EFEF-B764-4C08-B1A9-6A367324C385
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http://www.wikidata.org/entity/statement/Q48490299-A708EFEF-B764-4C08-B1A9-6A367324C385
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900fa671f54b8ae44a6697c8fcf66692793d8703
P2860
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.