Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.L1054R
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ABCB11

NM_003742.4:p.L1054R

Associated Papers

A Novel Variant (p.Leu1054Arg) in ABCB11 Presenting with Progressive Familial Intrahepatic Cholestasis (PFIC) with Congenital Hypothyroidism.

Agarwal S et al.

Indian Journal of Pediatrics, 2024

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

Sheth J et al.

Orphanet Journal of Rare Diseases, 2024

39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM4_ESM.xlsx › Sheet1
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