Varaico: Literature-Extracted Genetic Variants

Gene:NUDCD2
Variant:p.L124insFs
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NUDCD2

NM_145266.6:p.L124insFs

Associated Papers

Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure.

Scheuerle AE et al.

American Journal of Medical Genetics. Part A, 2023

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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."