Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.P359L
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BMP15

NM_005448.2:p.P359L

Associated Papers

Exploring the functional and structural impacts of high-risk nsSNPs in human BMP15 and GDF9 genes associated with premature ovarian failure: an in silico approach.

Navapour L et al.

Journal of Biomolecular Structure & Dynamics, 2025

A Novel Homozygous BMP15 Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.

Cohen A et al.

Journal of the Endocrine Society, 2025

Genetic insights into the complexity of premature ovarian insufficiency.

Nie L et al.

Reproductive Biology and Endocrinology : Rb&e, 2024

Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency.

Demain LAM et al.

Reproductive Biomedicine Online, 2022

Identification of novel biallelic variants in BMP15 in two siblings with premature ovarian insufficiency.

Zhang T et al.

Journal of Assisted Reproduction and Genetics, 2022

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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."