Varaico: Literature-Extracted Genetic Variants

Gene:NPR2
Variant:p.R741Q
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NPR2

NM_003995.4:p.R741Q

Associated Papers

Functional analysis of NPR2 variants supports the therapeutic rationale for CNP in short stature.

Jeong R et al.

American Journal of Human Genetics, 2026

41512838 (PubMed )
Supplement: mmc9.xlsx › Height_associations_with_NPR2

Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2025

40898337 (PubMed )
Supplement: 13023_2025_4003_MOESM4_ESM.xlsx › Neurological
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