Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3A
Variant:p.R203*
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SEMA3A

NM_006080.3:p.R203*

Associated Papers

Recognizable type of pituitary, heart, kidney and skeletal dysplasia mostly caused by SEMA3A mutation: A case report.

Hu F et al.

World Journal of Clinical Cases, 2019

A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants.

Baumann M et al.

Clinical Genetics, 2017

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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."