Varaico: Literature-Extracted Genetic Variants

Gene:FIGLA
Variant:p.A4E
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FIGLA

NM_001004311.3:p.A4E

Associated Papers

Genetic insights into the complexity of premature ovarian insufficiency.

Nie L et al.

Reproductive Biology and Endocrinology : Rb&e, 2024

Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.

Luo W et al.

Journal of Ovarian Research, 2023

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.

Jiao SY et al.

Human Reproduction Update, 2021

Mutations in FIGLA Associated With Premature Ovarian Insufficiency in a Chinese Population.

Mei L et al.

Frontiers in Medicine, 2021

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Chen X et al.

Bmc Medical Genetics, 2019

31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.

Laissue P

Molecular and Cellular Endocrinology, 2015

Transcription factor FIGLA is mutated in patients with premature ovarian failure.

Zhao H et al.

American Journal of Human Genetics, 2008

Genetics of primary ovarian insufficiency: new developments and opportunities.

Qin Y et al.

Human Reproduction Update, 0

Homozygous FIGLA missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review.

Tanikawa W et al.

Reproductive Medicine and Biology, 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."