Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.L122S
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BMPR2

NM_001204.7:p.L122S

Associated Papers

TGF-β receptor mutations and clinical prognosis in Chinese pediatric patients with idiopathic/hereditary pulmonary arterial hypertension.

Zhang X et al.

Pulmonary Circulation, 2022

35514780 (PubMed )
Supplement: PUL2-12-e12076-s001.pdf

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s022.xlsx › CRC.Drivers.Edited
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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."