Biallelic loss of EMC10 leads to mild to severe intellectual disability
Biallelic loss of EMC10 leads to mild to severe intellectual disability
About this item
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Author / Creator
Kaiyrzhanov, Rauan , Rocca, Clarissa , Suri, Mohnish , Gulieva, Sughra , Zaki, Maha S. , Henig, Noa Z. , Siquier, Karine , Guliyeva, Ulviyya , Mounir, Samir M. , Marom, Daphna , Allahverdiyeva, Aynur , Megahed, Hisham , Bokhoven, Hans , Cantagrel, Vincent , Rad, Aboulfazl , Pourkeramti, Alemeh , Dehghani, Boshra , Shao, Diane D. , Markus‐Bustani, Keren , Sofrin‐Drucker, Efrat , Orenstein, Naama , Salayev, Kamran , Arrigoni, Filippo , Houlden, Henry and Maroofian, Reza
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
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 ex...
Alternative Titles
Full title
Biallelic loss of EMC10 leads to mild to severe intellectual disability
Authors, Artists and Contributors
Author / Creator
Rocca, Clarissa
Suri, Mohnish
Gulieva, Sughra
Zaki, Maha S.
Henig, Noa Z.
Siquier, Karine
Guliyeva, Ulviyya
Mounir, Samir M.
Marom, Daphna
Allahverdiyeva, Aynur
Megahed, Hisham
Bokhoven, Hans
Cantagrel, Vincent
Rad, Aboulfazl
Pourkeramti, Alemeh
Dehghani, Boshra
Shao, Diane D.
Markus‐Bustani, Keren
Sofrin‐Drucker, Efrat
Orenstein, Naama
Salayev, Kamran
Arrigoni, Filippo
Houlden, Henry
Maroofian, Reza
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_e325a36924f6490ca000078333d8a8e5
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e325a36924f6490ca000078333d8a8e5
Other Identifiers
ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.51602
