Varaico: Literature-Extracted Genetic Variants

Gene:BMP2
Variant:p.R154Q
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BMP2

NM_001200.4:p.R154Q

Associated Papers

Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.

Kałużna M et al.

Frontiers in Endocrinology, 2024

Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.

Wang T et al.

Computational and Structural Biotechnology Journal, 2023

38213898 (PubMed )
Supplement: mmc2.xlsx › RIVs_in_VARGs

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Calpena E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32499606 (PubMed )
Supplement: 41436_2020_817_MOESM5_ESM.xlsx › Table_S4

SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis.

Yang Y et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Reactivation of a developmental Bmp2 signaling center is required for therapeutic control of the murine periosteal niche.

Salazar VS et al.

Elife, 2019

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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."