Paper Details

Paper Title

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.

Paper Journal Title

Genet Med

Paper Citation Count

Paper Publication Year

2021

Bio Mention

287delG, EMC, EMC10, EMC10 RNA, EMC10 c, EMC10 c.287delG, EMC10 frameshift variant, EMC10 variant, GDD, ID, arachnodactyly, cubitus valgus, curly hair, developmental delay, dysmorphic features, elongated face, endoplasmic reticulum membrane complex, exome, frameshift variant, genome, global developmental delay, human, hypermutable site, intellectual disability, seizures, syndromic neurodevelopmental, truncated EMC10 protein

Mesh Descriptor

Author Name	Affiliation
Robert Sean Hill	Boston Children's Hospital
Robert Sean Hill	Howard Hughes Medical Institute, Boston Children's Hospital
Saumya Shekhar Jamuar	KK Women's and Children's Hospital
Saumya Shekhar Jamuar
Friedhelm Hildebrandt	Boston Children's Hospital
Lihadh Al-Gazali	United Arab Emirates University
Christopher A Walsh	Boston Children's Hospital
Christopher A Walsh	Howard Hughes Medical Institute, Boston Children's Hospital
Christopher A Walsh	Boston Children's Hospital
Christopher A Walsh	Howard Hughes Medical Institute, Boston Children's Hospital

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Dataset	Description	Source Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link

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