Varaico: Literature-Extracted Genetic Variants

Gene:EMC10
Variant:p.Y226_W227Splc
Back to variants list

EMC10

NM_206538.4:p.Y226_W227Splc

Associated Papers

EMC10 Gene Variants May Cause Dual Molecular Effects on the Neuropsychiatric Disease Pattern.

Bolat H et al.

Developmental Neurobiology, 2025

Biallelic loss of EMC10 leads to mild to severe intellectual disability.

Kaiyrzhanov R et al.

Annals of Clinical and Translational Neurology, 2022

35684946 (PubMed )
Supplement: ACN3-9-1080-s004.xlsx › Sheet1

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.

Umair M et al.

Clinical Genetics, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."