Varaico: Literature-Extracted Genetic Variants

Gene:GCDH
Variant:p.A169Splc
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GCDH

NM_000159.4:p.A169Splc

Associated Papers

Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.

Jamaleddin T et al.

International Journal of Neonatal Screening, 2025

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Negev_Bedouins

Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.

Ben-Rebeh I et al.

Genetic Testing and Molecular Biomarkers, 2012

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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."