Varaico: Literature-Extracted Genetic Variants

Gene:EMC10
Variant:p.S23fs
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EMC10

NM_206538.4:p.S23fs

Associated Papers

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
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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."