Varaico: Literature-Extracted Genetic Variants

Gene:KHDC3L
Variant:p.M1I
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KHDC3L

NM_001017361.3:p.M1I

Associated Papers

DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.

Anvar Z et al.

Genes, 2021

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

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

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

Parry DA et al.

American Journal of Human Genetics, 2011

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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."