Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing
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DOI: 10.1002/pd.6248
Abstract: A couple of Ashkenazi Jewish descent was referred for an early anatomy scan at 14 + 2 weeks of gestation following a previous pregnancy termination due to posterior encephalocele and enlarged kidneys. The index pregnancy… read more here.
Keywords: tmem67 variant; intronic tmem67; significance likely; upgrading intronic ... See more keywords