Varaico: Literature-Extracted Genetic Variants

Gene:SEMA5A
Variant:p.R995W
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SEMA5A

NM_003966.3:p.R995W

Associated Papers

De Novo Germline Mutations in SEMA5A Associated With Infantile Spasms.

Wang Q et al.

Frontiers in Genetics, 2019

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

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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."