Varaico: Literature-Extracted Genetic Variants

Gene:BMP7
Variant:p.R289H
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BMP7

NM_001719.3:p.R289H

Associated Papers

Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome.

Chen N et al.

Journal of Medical Genetics, 2026

41233206 (PubMed )
Supplement: jmg-63-2-s002.xlsx › Supplementary_Table_5

PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors.

Lee W et al.

Nature Genetics, 2014

25240281 (PubMed )
Supplement: NIHMS623924-supplement-1.pdf
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