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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report

Fig. 3

Sanger sequencing results of the patient and her parents. The single nucleotide deletion in the patient is indicated by the red arrow. The same position in her parents is indicated by the green arrow. The reverse primer was used for sequencing, and the mutation was a reverse-complement reading. The “c.” indicates the position in the transcript (NM_003482.3). The red letter “T” in the ref. line of the patient indicates the deletion of a nucleotide

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