Varaico: Literature-Extracted Genetic Variants

Gene:LTBP4
Variant:p.R1100*
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LTBP4

NM_001042545.2:p.R1100*

Associated Papers

Autosomal recessive cutis laxa type 1C with a compound heterozygous frame shift and nonsense LTBP4 variants.

Shoburu K et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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