Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.S2394R
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KMT2D

NM_003482.4:p.S2394R

Associated Papers

Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways.

Tønne E et al.

American Journal of Medical Genetics. Part A, 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."