Varaico: Literature-Extracted Genetic Variants

Gene:HMGA2
Variant:p.R49fs
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HMGA2

NM_003483.6:p.R49fs

Associated Papers

Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review.

Yamoto K et al.

Clinical Epigenetics, 2024

38840187 (PubMed )
Supplement: 13148_2024_1688_MOESM1_ESM.pdf

Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.

Maharaj AV et al.

Jci Insight, 2024

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