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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCB4

Variant:p.S242R

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ABCB4

NM_000443.4:p.S242R

hg38:chr7:87450075 A>C

Associated Papers

ABCB4 disease-causing variants S242R, S346I, T437I and T1077M significantly impair its function and display differential sensitivity to potentiators.

Madry C et al.

Scientific Reports, 2025

41274965 (PubMed )

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