Varaico: Literature-Extracted Genetic Variants

Gene:PGRMC1
Variant:p.H165R
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PGRMC1

NM_006667.5:p.H165R

Associated Papers

Searching for the 'X' factor: investigating the genetics of primary ovarian insufficiency.

Knight A et al.

Journal of Ovarian Research, 2024

"Response to the letter to the editor "Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency"".

Yang X et al.

Human Genetics, 2021

The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review.

Venturella R et al.

International Journal of Fertility & Sterility, 2019

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

Day FR et al.

Nature Genetics, 2015

26414677 (PubMed )
Supplement: NIHMS64932-supplement-Supplementary_Tables.xlsx › S14_MAGENTA_cust._POI_

Genes involved in human premature ovarian failure.

Persani L et al.

Journal of Molecular Endocrinology, 2010

Chromosomal abnormalities in women with premature ovarian failure.

Artini PG et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2010

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.

Mansouri MR et al.

Human Molecular Genetics, 2008

Genetics of primary ovarian insufficiency: new developments and opportunities.

Qin Y et al.

Human Reproduction Update, 0

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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."