Varaico: Literature-Extracted Genetic Variants

Gene:TMEM184B
Variant:p.L127R
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TMEM184B

NM_012264.5:p.L127R

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

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