Varaico: Literature-Extracted Genetic Variants

Gene:NPC1
Variant:p.L482L
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NPC1

NM_000271.5:p.L482L

Associated Papers

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G et al.

Autophagy, 2015

26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S5.xlsx › Foglio2
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