Varaico: Literature-Extracted Genetic Variants

Gene:PHGDH
Variant:p.R469Q
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PHGDH

NM_006623.4:p.R469Q

Associated Papers

Genetic Background of Macular Telangiectasia Type 2.

Kunčič A et al.

International Journal of Molecular Sciences, 2025

39859398 (PubMed )
Supplement: ijms-26-00684-s001.zip › 20241229_Table_S3.pdf

Serine and glycine physiology reversibly modulate retinal and peripheral nerve function.

Lim EW et al.

Cell Metabolism, 2024

Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.

Eade K et al.

Nature Metabolism, 2021

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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."