Varaico: Literature-Extracted Genetic Variants

Gene:NPC1L1
Variant:p.W347R
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NPC1L1

NM_001101648.2:p.W347R

Associated Papers

Evaluation of Myocilin Variant Protein Structures Modeled by AlphaFold2.

Ng TK et al.

Biomolecules, 2023

38275755 (PubMed )
Supplement: biomolecules-14-00014-s001.zip › biomolecules-2636549-supplementary-conversion.pdf

Structures of dimeric human NPC1L1 provide insight into mechanisms for cholesterol absorption.

Long T et al.

Science Advances, 2021

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