Publications:

Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.

Genes

Wang, Helen H HH; Portincasa, Piero P; Liu, Min M; Wang, David Q-H DQ

Publication Date: 2022-06-11

Variant appearance in text: ABCB4: 1731G>A

PubMed Link: 35741809

Variant Present in the following documents:

• Main text
• genes-13-01047.pdf

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Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.

Hepatology Communications

Schatz, Stephanie Barbara SB; Jüngst, Christoph C; Keitel-Anselmo, Verena V; Kubitz, Ralf R; Becker, Christina C; Gerner, Patrick P; Pfister, Eva-Doreen ED; Goldschmidt, Imeke I; Junge, Norman N; Wenning, Daniel D; Gehring, Stephan S; Arens, Stefan S; Bretschneider, Dirk D; Grothues, Dirk D; Engelmann, Guido G; Lammert, Frank F; Baumann, Ulrich U

Publication Date: 2018-05

Variant appearance in text: ABCB4: 1731G>A

PubMed Link: 29761167

Variant Present in the following documents:

• Main text
• HEP4-2-504.pdf

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