Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB13
Variant:p.R236*
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EFCAB13

NM_152347.5:p.R236*

Associated Papers

Plasma Metabolic Outliers Identified in Estonian Human Knockouts.

Yu K et al.

Metabolites, 2025

40422899 (PubMed )
Supplement: metabolites-15-00323-s001.zip › TableS2.xlsx › TableSY

Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.

Quarantani G et al.

Plos One, 2023

37540677 (PubMed )
Supplement: pone.0288336.s003.xlsx › Supplementary_Table_II

Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.

Modi BP et al.

Bmc Medical Genetics, 2018

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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."