Varaico: Literature-Extracted Genetic Variants

Gene:NPR2
Variant:p.Q756*
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NPR2

NM_003995.4:p.Q756*

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

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.

Halfmeyer I et al.

Genes, 2022

36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs

The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.

Zacher P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33911214 (PubMed )
Supplement: 41436_2021_1153_MOESM2_ESM.xlsx › Gen_DG
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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."