Varaico: Literature-Extracted Genetic Variants

Gene:SPAG17
Variant:p.C806F
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SPAG17

NM_206996.4:p.C806F

Associated Papers

A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.

Guzmán-Jiménez A et al.

Human Reproduction Open, 2024

39678461 (PubMed )
Supplement: hoae069_supplementary_data.zip › supplementary_tables.xlsx › S12

Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.

Butz H et al.

Frontiers in Oncology, 2022

35419288 (PubMed )
Supplement: Table_1.xlsx › exome_variants_MAF_0.01

Clinical and genetic analysis of a family with two rare reflex epilepsies.

Kasteleijn-Nolst Trenité DG et al.

Seizure, 2015

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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."