Varaico: Literature-Extracted Genetic Variants

Gene:EPHB2
Variant:p.N63S
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EPHB2

NM_017449.5:p.N63S

Associated Papers

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Genovese G et al.

Nature Neuroscience, 2016

27694994 (PubMed )
Supplement: NIHMS815183-supplement-supp_table3.xlsx › Supplemenary_Table_3

Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.

Martinelli S et al.

The Journal of Biological Chemistry, 2012

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