Varaico: Literature-Extracted Genetic Variants

Gene:NRXN2
Variant:p.L53F
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NRXN2

NM_015080.4:p.L53F

Associated Papers

Genetic Diagnostics and Phenotypic Profiling of a Girl With Autosomal Recessive Intellectual Developmental Disorder and Autism.

Lakatosova S et al.

Cureus, 2024

A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction.

Shao Q et al.

The Journal of Biological Chemistry, 2016

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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."