Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.M1delFs
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C2

NM_000063.6:p.M1delFs

Associated Papers

Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency.

Jain A et al.

Journal of Inherited Metabolic Disease, 2026

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.

Chassaing N et al.

Genome Research, 2016

26893459 (PubMed )
Supplement: supp_gr.196048.115_Supp_Tables_2-7.docx
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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."