Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.S169fs
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HMGCL

NM_000191.3:p.S169fs

Associated Papers

Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruence.

Newman S et al.

Molecular Genetics and Metabolism, 2026

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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."