Varaico: Literature-Extracted Genetic Variants

Gene:KDM3A
Variant:p.P517S
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KDM3A

NM_018433.6:p.P517S

Associated Papers

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.

Levine JM et al.

American Journal of Human Genetics, 2026

TRIM71 Deficiency Causes Germ Cell Loss During Mouse Embryogenesis and Is Associated With Human Male Infertility.

Torres-Fernández LA et al.

Frontiers in Cell and Developmental Biology, 2021

34055789 (PubMed )
Supplement: Data_Sheet_1.pdf
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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."