Varaico: Literature-Extracted Genetic Variants

Gene:ABCD4
Variant:p.S147N
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ABCD4

NM_005050.4:p.S147N

Associated Papers

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc5.xlsx › Suppl_Table_5A

Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.

Esser AJ et al.

Iscience, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."