Varaico: Literature-Extracted Genetic Variants

Gene:ECSIT
Variant:p.N134fs
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ECSIT

NM_016581.5:p.N134fs

Associated Papers

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.

Alston CL et al.

American Journal of Human Genetics, 2016

27374774 (PubMed )
Supplement: mmc4.pdf
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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."