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Paper Details

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.
Genet Med
28
2020
CKDL5, KMT2C, Kleefstra syndrome, OFD1, OFD1 disorder, OFD1-related disorders, brain-expressed KMT2C isoform, exon 10, patients, proximal exons, transcripts
Author NameAffiliation
Kelly SchochDuke University Medical Center
Allyn McConkie-RosellDuke University Medical Center
David B GoldsteinInstitute of Genomic Medicine, Columbia University
David B GoldsteinInstitute of Genomic Medicine, Columbia University
Yong-Hui JiangDuke University Medical Center
Vandana ShashiDuke University Medical Center
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Datasets

Release 1.2