Varaico: Literature-Extracted Genetic Variants

Gene:NCAPH
Variant:p.D734E
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NCAPH

NM_015341.5:p.D734E

Associated Papers

PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome.

Shahroor MA et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

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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."