Varaico: Literature-Extracted Genetic Variants

Gene:KHDC3L
Variant:p.Q15fs
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KHDC3L

NM_001017361.3:p.Q15fs

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

Structural basis of the subcortical maternal complex and its implications in reproductive disorders.

Chi P et al.

Nature Structural & Molecular Biology, 2024

38177687 (PubMed )
Supplement: 41594_2023_1153_MOESM3_ESM.xlsx › Table_S1

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

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."