Varaico: Literature-Extracted Genetic Variants

Gene:SMO
Variant:p.R400H
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SMO

NM_005631.5:p.R400H

Associated Papers

Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome.

Green TE et al.

European Journal of Human Genetics : Ejhg, 2022

Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Harmancı AS et al.

Nature Communications, 2017

28195122 (PubMed )
Supplement: ncomms14433-s2.xlsx › Table_S1A
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