Varaico: Literature-Extracted Genetic Variants

Gene:NPC1L1
Variant:p.T323P
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NPC1L1

NM_001101648.2:p.T323P

Associated Papers

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.

Meinke P et al.

Ebiomedicine, 2020

31862442 (PubMed )
Supplement: mmc1.xlsx › Family_Sequencing
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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."