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Biallelic loss of EMC10 leads to mild to severe intellectual disability

9 Jun 2022

Abstract excerpt

The endoplasmic reticulum membrane protein complex subunit 10 (EMC10) is a highly conserved protein responsible for the post-translational insertion of tail-anchored membrane proteins into the endoplasmic reticulum in a defined topology. Two biallelic variants in EMC10 have previously been associated with a neurodevelopmental disorder. Utilizing exome sequencing and international data sharing we have identified...

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PMID: 35684946
DOI: 10.1002/acn3.51602

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Biallelic loss of EMC10 leads to mild to severe intellectual disabilityPMID 35684946Read ↗

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