Varaico: Literature-Extracted Genetic Variants

Gene:PGM1
Variant:p.N34S
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PGM1

NM_002633.3:p.N34S

Associated Papers

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

He Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1

Destabilization and Degradation of a Disease-Linked PGM1 Protein Variant.

Gouliaev F et al.

Biochemistry, 2024

38743592 (PubMed )
Supplement: bi4c00042_si_002.xlsx › Sheet1
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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."