Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.Q227R
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MFAP1

NM_005926.3:p.Q227R

Associated Papers

Activating mutations of the Gs alpha gene are associated with low levels of Gs alpha protein in growth hormone-secreting tumors.

Ballaré E et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas.

Williamson EA et al.

European Journal of Clinical Investigation, 1995

Two G protein oncogenes in human endocrine tumors.

Lyons J et al.

Science (new York, N.y.), 1990

GTPase-inhibiting mutations activate the alpha-chain of Gs in human tumours.

Vallar L

Biochemical Society Symposium, 1990

GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours.

Landis CA et al.

Nature, 1989

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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."