Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.I250T
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GCDH

NM_000159.4:p.I250T

Associated Papers

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.

Guenzel AJ et al.

Jimd Reports, 2021

Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families.

Lin SK et al.

Prenatal Diagnosis, 2002

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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."