Varaico: Literature-Extracted Genetic Variants

Gene:SERAC1
Variant:p.D119Splc
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SERAC1

NM_032861.4:p.D119Splc

Associated Papers

A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing.

Alagoz M et al.

Experimental and Therapeutic Medicine, 2020

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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."