Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL4
Variant:p.T233T
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ELOVL4

NM_022726.4:p.T233T

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.

Yi J et al.

Molecular Medicine Reports, 2012

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