Varaico: Literature-Extracted Genetic Variants

Gene:SLC13A1
Variant:p.R272C
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SLC13A1

NM_022444.4:p.R272C

Associated Papers

Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits.

Scherer N et al.

Nature Genetics, 2025

39747595 (PubMed )
Supplement: 41588_2024_1965_MOESM3_ESM.pdf

Exome-Sequencing Identifies Novel Genes Associated with Recurrent Pregnancy Loss in a Chinese Cohort.

Xiang H et al.

Frontiers in Genetics, 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."