Varaico: Literature-Extracted Genetic Variants

Gene:TMEM184B
Variant:p.R282H
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TMEM184B

NM_012264.5:p.R282H

Associated Papers

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

Chapman KA et al.

American Journal of Human Genetics, 2025

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

Chapman KA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations.

Brady SW et al.

Nature Communications, 2020

33056981 (PubMed )
Supplement: 41467_2020_18987_MOESM7_ESM.xlsx › 4
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