Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B1
Variant:p.V134fs
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PAFAH1B1

NM_000430.4:p.V134fs

Associated Papers

Mapping the Non-Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility.

Li K et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026

Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders.

Xiao B et al.

Genome Medicine, 2024

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