Varaico: Literature-Extracted Genetic Variants

Gene:POMT1
Variant:p.G495R
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POMT1

NM_007171.4:p.G495R

Associated Papers

Reclassifying a Novel POMT1 Variant by Integrating Functional Analysis and Bioinformatics: Implications for Preimplantation Genetic Testing.

Ma B et al.

Reproductive Sciences (thousand Oaks, Calif.), 2025

Fetal phenotypes of Mendelian disorders: A descriptive study from India.

Saini N et al.

Prenatal Diagnosis, 2022

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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."