Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.M1I
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CYP19A1

NM_000103.4:p.M1I

Associated Papers

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.

Laissue P

Molecular and Cellular Endocrinology, 2015

Tall stature without growth hormone: four male patients with aromatase deficiency.

Rochira V et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

Mutations in NR5A1 associated with ovarian insufficiency.

Lourenço D et al.

The New England Journal of Medicine, 2009

Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment.

Maffei L et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex).

Stratakis CA

Annals of the New York Academy of Sciences, 2002

A tetranucleotide repeat polymorphism in CYP19 and breast cancer risk.

Haiman CA et al.

International Journal of Cancer, 2000

Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk.

Siegelmann-Danieli N et al.

British Journal of Cancer, 1999

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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."