Varaico: Literature-Extracted Genetic Variants

Gene:KHDC3L
Variant:p.Q15delFs
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KHDC3L

NM_001017361.3:p.Q15delFs

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2

Advances in the genetic etiology of female infertility.

Gu R et al.

Journal of Assisted Reproduction and Genetics, 2024

Genetic variants underlying developmental arrests in human preimplantation embryos.

Ozturk S

Molecular Human Reproduction, 2023

Gene mutations impede oocyte maturation, fertilization, and early embryonic development.

Fei CF et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2022

KH domain containing 3 like (KHDC3L) frame-shift mutation causes both recurrent pregnancy loss and hydatidiform mole.

Fatemi N et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2021

Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest.

Wang X et al.

Reproductive Biomedicine Online, 2018

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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."