Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3A
Variant:p.S54G
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SEMA3A

NM_006080.3:p.S54G

Associated Papers

SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).

Budny B et al.

Frontiers in Endocrinology, 2020

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

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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