Varaico: Literature-Extracted Genetic Variants

Gene:MESP2
Variant:p.L127L
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MESP2

NM_001039958.2:p.L127L

Associated Papers

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

Szot JO et al.

The Journal of Clinical Investigation, 2024

38357931 (PubMed )
Supplement: jci-134-174824-s287.pdf
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