Clinical heterogeneity of NADSYN1‐associated VCRL syndrome
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DOI: 10.1111/cge.14328
Abstract: The NADSYN1 gene [MIM*608285] encodes the NAD synthetase 1 enzyme involved in the final step of NAD biosynthesis, crucial for cell metabolism and organ embryogenesis. Perturbating the role of NAD biosynthesis results in the association… read more here.
Keywords: clinical heterogeneity; heterogeneity nadsyn1; nadsyn1 associated; nad deficiency ... See more keywords