Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.N510T
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ABCB4

NM_000443.4:p.N510T

Associated Papers

Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.

Sharabati I et al.

Annals of Medicine and Surgery (2012), 2025

Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.

Gonzales E et al.

Jhep Reports : Innovation in Hepatology, 2023

37701337 (PubMed )
Supplement: mmc1.pdf

Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.

Almes M et al.

Diagnostics (basel, Switzerland), 2022

35626323 (PubMed )
Supplement: diagnostics-12-01169-s001.zip › diagnostics-1660539-supplementary.pdf
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