Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.W253R
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SIX3

NM_005413.4:p.W253R

Associated Papers

Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.

Jeong R et al.

Npj Genomic Medicine, 2025

Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft.

Jeong R et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.

Wilson K et al.

Human Molecular Genetics, 2023

37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4
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