Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.K44*
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EGLN1

NM_022051.3:p.K44*

Associated Papers

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.

Gerber CB et al.

Clinical Genetics, 2022

35662002 (PubMed )
Supplement: CGE-102-182-s001.docx
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