Varaico: Literature-Extracted Genetic Variants

Gene:ABHD17A
Variant:p.S36_L37del2
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ABHD17A

NM_001130111.2:p.S36_L37del2

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.

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Hadjipanteli A et al.

Genes, 2024

38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_2__manuscript_supplementary_material_.xlsx › Transcripts
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