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POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4
Download from www.nature.comDeciphering exome sequencing data: Bringing mitochondrial DNA variants to light
Download from onlinelibrary.wiley.comHNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans
UploadBiallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
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