Varaico: Literature-Extracted Genetic Variants

Gene:ROBO1
Variant:p.R36M
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ROBO1

NM_002941.4:p.R36M

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

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.

Ding Y et al.

Npj Genomic Medicine, 2023

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

Woodring TS et al.

Pediatrics, 2021

Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Dietz S et al.

Oncotarget, 2017

29088767 (PubMed )
Supplement: oncotarget-08-74049-s002.xlsx › Patient_1_-_Progress
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."