Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.P2238insFs
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KMT2D

NM_003482.4:p.P2238insFs

Associated Papers

Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review.

Valovičová K et al.

Prenatal Diagnosis, 2025

Non-invasive prenatal detection of dominant single-gene disorders in fetal structural abnormalities: a clinical feasibility study.

Wang L et al.

Archives of Gynecology and Obstetrics, 2024

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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."