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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EEA1

Variant:p.L312P

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EEA1

NM_003566.4:p.L312P

hg38:chr12:92832831 A>G

Associated Papers

RNF13 Dileucine Motif Variants L311S and L312P Interfere with Endosomal Localization and AP-3 Complex Association.

Cabana VC et al.

Cells, 2021

34831286 (PubMed )

Supplement: cells-10-03063-s001.zip › Cabana_et_al_2021__supplementary_tables_S1-S10_final.pdf

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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."