Varaico: Literature-Extracted Genetic Variants

Gene:KHDC3L
Variant:p.E97Q
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KHDC3L

NM_001017361.3:p.E97Q

Associated Papers

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

No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles.

Mahadevan S et al.

Prenatal Diagnosis, 2013

NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage.

Andreasen L et al.

Molecular Human Reproduction, 2013

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

Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221.

Andreasen L et al.

Molecular Human Reproduction, 2012

Absence of KHDC3L mutations in Chinese patients with recurrent and sporadic hydatidiform moles.

Zhao W et al.

Cancer Genetics, 0

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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."