Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.A82V
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C2

NM_000063.6:p.A82V

Associated Papers

Purification and structure of luminal domain C of human Niemann-Pick C1 protein.

Odongo L et al.

Acta Crystallographica. Section F, Structural Biology Communications, 2023

Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Simonetti G et al.

Leukemia, 2021

34193978 (PubMed )
Supplement: 41375_2021_1318_MOESM7_ESM.xlsx › S12-Variants

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."