Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF5
Variant:p.L274Q
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NDUFAF5

NM_024120.5:p.L274Q

Associated Papers

Early diagnosis of fetal ganglionic eminence cysts: imaging, outcome and genetic associations, revealing role of mitochondrial dysfunction.

Birnbaum R et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2026

Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype.

Brabbing-Goldstein D et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2024

Before homozygous NDUFAF5 variants are held responsible for intrauterine death, their pathogenicity must be demonstrated.

Finsterer J

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2024

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table2.xlsx › Supplementary_table_2._
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