Varaico: Literature-Extracted Genetic Variants

Gene:NLRP5
Variant:p.L758_W759delFs
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NLRP5

NM_153447.4:p.L758_W759delFs

Associated Papers

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

Exonic genetic variants associated with unexpected fertilization failure and zygotic arrest after ICSI: a systematic review.

Torra-Massana M et al.

Zygote (cambridge, England), 2023

Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.

Huang L et al.

Journal of Assisted Reproduction and Genetics, 2022

Gene mutations associated with fertilization failure after in vitro fertilization/intracytoplasmic sperm injection.

Xue Y et al.

Frontiers in Endocrinology, 2022

A new NLRP5 mutation causes female infertility and total fertilization failure.

Li M et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2021

A genomics approach to females with infertility and recurrent pregnancy loss.

Maddirevula S et al.

Human Genetics, 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."