Varaico: Literature-Extracted Genetic Variants

Gene:ROBO1
Variant:p.P564S
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ROBO1

NM_002941.4:p.P564S

Associated Papers

Compound heterozygous ROBO1 gene variants in a neonate with congenital hypopituitarism, dysmorphic features and midline abnormalities: a case report and review of the literature.

Markopoulou P et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025

Uncertain, Not Unimportant: Callosal Dysgenesis and Variants of Uncertain Significance in ROBO1.

Woodring TS et al.

Pediatrics, 2021

A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome

Liu Z et al.

Journal of Clinical Research in Pediatric Endocrinology, 2020

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