New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the journal Genetics in Medicine on August 9, 2024, titled "Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing."
Read the paper here: https://www.gimopen.org/article/S2949-7744(24)01032-X/fulltext
Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
Read the paper here: https://www.gimopen.org/article/S2949-7744(24)01032-X/fulltext
Learn more about FCDGC: https://fcdgc.rarediseasesnetwork.org
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