Varaico: Literature-Extracted Genetic Variants

Gene:RXFP2
Variant:p.G499E
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RXFP2

NM_130806.5:p.G499E

Associated Papers

Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis.

Syryn H et al.

Human Reproduction (oxford, England), 2024

Achieving an optimal pregnancy outcome through the combined utilization of micro-TESE and ICSI in cryptorchidism associated with a non-canonical splicing variant in RXFP2.

Ruan L et al.

Journal of Assisted Reproduction and Genetics, 2024

Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility.

Dicke AK et al.

Human Reproduction (oxford, England), 2023

Familial bilateral cryptorchidism is caused by recessive variants in RXFP2.

Ayers K et al.

Journal of Medical Genetics, 2019

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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."