Varaico: Literature-Extracted Genetic Variants

Gene:ABHD17A
Variant:p.F13fs
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ABHD17A

NM_001130111.2:p.F13fs

Associated Papers

MCM9 deficiency impairs DNA damage repair during spermatogenesis, leading to Sertoli cell-only syndrome in humans.

Sha X et al.

Cell Death Discovery, 2025

40593474 (PubMed )
Supplement: 41420_2025_2581_MOESM1_ESM.docx

Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.

Pasternak Y et al.

The Journal of Allergy and Clinical Immunology. Global, 2024

38800615 (PubMed )
Supplement: mmc2.xlsx › P5-potential_comp.het.

Characterization of the genomic alterations in poorly differentiated thyroid cancer.

Lee Y et al.

Scientific Reports, 2023

37932340 (PubMed )
Supplement: 41598_2023_46466_MOESM2_ESM.xlsx › P04

Deficient mismatch repair is detected in large-to-giant congenital melanocytic naevi: providing new insight into aetiology and diagnosis.

Wei B et al.

The British Journal of Dermatology, 2023

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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."