Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.S254G
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HMGCL

NM_000191.3:p.S254G

Associated Papers

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Diagnosed

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Genovese G et al.

Nature Neuroscience, 2016

27694994 (PubMed )
Supplement: NIHMS815183-supplement-supp_table3.xlsx › Supplemenary_Table_3
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