Varaico: Literature-Extracted Genetic Variants

Gene:SEMA5A
Variant:p.S956G
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SEMA5A

NM_003966.3:p.S956G

Associated Papers

The regulation of enteric neuron connectivity by semaphorin 5A is affected by the autism-associated S956G missense mutation.

Le Dréan ME et al.

Iscience, 2024

De Novo Germline Mutations in SEMA5A Associated With Infantile Spasms.

Wang Q et al.

Frontiers in Genetics, 2019

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

Mosca-Boidron AL et al.

European Journal of Human Genetics : Ejhg, 2016

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC11_ERR166336
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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."