Varaico: Literature-Extracted Genetic Variants

Gene:PRDM2
Variant:p.G1047R
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PRDM2

NM_001393986.1:p.G1047R

Associated Papers

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

Motta M et al.

Human Molecular Genetics, 2022

35348676 (PubMed )
Supplement: supplemetal_data_ddac071.pdf
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