Varaico: Literature-Extracted Genetic Variants

Gene:BMPR1A
Variant:p.R442H
Back to variants list

BMPR1A

NM_004329.3:p.R442H

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Screening for causative mutations in ovine BMPR1B and BMP15 genes and their homologous fragments in human.

Zamani P et al.

Journal of Assisted Reproduction and Genetics, 2023

Selected Genetic Factors Associated with Primary Ovarian Insufficiency.

Chen M et al.

International Journal of Molecular Sciences, 2023

Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole-Exome Sequencing in a Patient with Delayed-Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1R206H -Specific Human Cellular and Zebrafish Models.

Wentworth KL et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022

Deletion of Gremlin-2 alters estrous cyclicity and disrupts female fertility in mice†.

Rydze RT et al.

Biology of Reproduction, 2021

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Miller EM et al.

Bmc Medical Genomics, 2020

33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1

BMPR1A and BMPR1B Missense Mutations Cause Primary Ovarian Insufficiency.

Renault L et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing.

Patiño LC et al.

Human Reproduction (oxford, England), 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."