Varaico: Literature-Extracted Genetic Variants

Gene:SIM2
Variant:p.A63V
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SIM2

NM_005069.6:p.A63V

Associated Papers

Whole-exome sequencing identifies ECPAS as a novel potentially pathogenic gene in multiple hereditary families with nonsyndromic orofacial cleft.

Zhao H et al.

Protein & Cell, 2024

38695759 (PubMed )
Supplement: pwae021_suppl_supplementary_figures_s1-s10_tables_s1-s2.pdf

The Participation of the Intrinsically Disordered Regions of the bHLH-PAS Transcription Factors in Disease Development.

Kolonko-Adamska M et al.

International Journal of Molecular Sciences, 2021

Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.

Albrechtsen A et al.

Diabetologia, 2013

23160641 (PubMed )
Supplement: 125_2012_2756_MOESM26_ESM.pdf
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