Varaico: Literature-Extracted Genetic Variants

Gene:KHDC3L
Variant:p.I100fs
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KHDC3L

NM_001017361.3:p.I100fs

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

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

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

Founder Effect of KHDC3L, p.M1V Mutation, on Iranian Patients with Recurrent Hydatidiform Moles.

Fallahi J et al.

Iranian Journal of Medical Sciences, 2020

Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole.

Rezaei M et al.

Human Genome Variation, 2016

Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.

Reddy R et al.

European Journal of Human Genetics : Ejhg, 2013

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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."