Varaico: Literature-Extracted Genetic Variants

Gene:NLRP7
Variant:p.E113insFs
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NLRP7

NM_001127255.2:p.E113insFs

Associated Papers

A systematic approach to the reporting of medically relevant findings from whole genome sequencing.

McLaughlin HM et al.

Bmc Medical Genetics, 2014

Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.

Wang CM et al.

Journal of Medical Genetics, 2009

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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."