Varaico: Literature-Extracted Genetic Variants

Gene:NCAM1
Variant:p.A91V
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NCAM1

NM_181351.5:p.A91V

Associated Papers

The Genomic Landscape of Renal Oncocytoma Identifies a Metabolic Barrier to Tumorigenesis.

Joshi S et al.

Cell Reports, 2015

26655904 (PubMed )
Supplement: NIHMS762760-supplement-Table_S2.pdf

Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic function.

Urrea Moreno R et al.

Blood, 2009

Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease.

Marcenaro S et al.

Blood, 2006

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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."