Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.T284_K285delFs
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GALT

NM_000155.4:p.T284_K285delFs

Associated Papers

Prevalence of common autosomal recessive and X-linked conditions in pregnant women in Vietnam: a cross-sectional study.

Nguyen TT et al.

Scientific Reports, 2025

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.

Zhang R et al.

Scientific Reports, 2021

Deep phenotyping of patients with citrin deficiency in Singapore- single centre experience.

Yeo M et al.

Molecular Genetics and Metabolism, 0

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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."