Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.E710Splc
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NLRP7

NM_001127255.2:p.E710Splc

Associated Papers

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.

Reddy R et al.

European Journal of Human Genetics : Ejhg, 2016

Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.

Nguyen NM et al.

Journal of Medical Genetics, 2014

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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."