Varaico: Literature-Extracted Genetic Variants

Gene:EHMT1
Variant:p.S673Splc
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EHMT1

NM_024757.5:p.S673Splc

Associated Papers

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.

Tooze RS et al.

Genes, 2023

36980886 (PubMed )
Supplement: genes-14-00615-s001.zip › Supplementary_Information.pdf

Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.

Tønne E et al.

European Journal of Human Genetics : Ejhg, 2021

33288889 (PubMed )
Supplement: 41431_2020_788_MOESM2_ESM.xlsx › Ark1
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