Varaico: Literature-Extracted Genetic Variants

Gene:FANCL
Variant:p.Q350fs
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FANCL

NM_018062.4:p.Q350fs

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

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

Advances in the genetic etiology of female infertility.

Gu R et al.

Journal of Assisted Reproduction and Genetics, 2024

Research progress of the Fanconi anemia pathway and premature ovarian insufficiency†.

Zhao J et al.

Biology of Reproduction, 2023

The neglected members of the family: non-BRCA mutations in the Fanconi anemia/BRCA pathway and reproduction.

Vanni VS et al.

Human Reproduction Update, 2022

Meiotic Recombination Defects and Premature Ovarian Insufficiency.

Huang C et al.

Frontiers in Cell and Developmental Biology, 2021

Should FANCL heterozygous pathogenic variants be considered as potentially causative of primary ovarian insufficiency?

Heddar A et al.

Human Mutation, 2020

Response to "Should FANCL heterozygous pathogenic variants be considered as potentially causative of primary ovarian insufficiency?"

Yang Y et al.

Human Mutation, 2020

FANCL gene mutations in premature ovarian insufficiency.

Yang Y et al.

Human Mutation, 2020

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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."