Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.N395fs
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SETBP1

NM_015559.3:p.N395fs

Associated Papers

The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.

Leone MP et al.

Italian Journal of Pediatrics, 2020

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