Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.F236fs
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GCDH

NM_000159.4:p.F236fs

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

Clinical Characteristics, Molecular Profile, and Outcomes in Indian Patients with Glutaric Aciduria Type 1.

Tamhankar PM et al.

Journal of Pediatric Genetics, 2021

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