Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3D
Variant:p.S65P
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SEMA3D

NM_001384900.1:p.S65P

Associated Papers

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.

Jiang Q et al.

American Journal of Human Genetics, 2015

Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections.

Degenhardt K et al.

Nature Medicine, 2013

Rapid and efficient human mutation detection using a bench-top next-generation DNA sequencer.

Jiang Q et al.

Human Mutation, 2012

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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."