Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.E129fs
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GCDH

NM_000159.4:p.E129fs

Associated Papers

Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application.

Tibelius A et al.

Genes, 2023

38137040 (PubMed )
Supplement: genes-14-02218-s001.zip › genes-2754842-supplementary.xlsx › S1
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