Varaico: Literature-Extracted Genetic Variants

Gene:LAMP2
Variant:p.T213I
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LAMP2

NM_002294.3:p.T213I

Associated Papers

Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

Londin ER et al.

American Journal of Medical Genetics. Part A, 2014

Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.

Finsterer J

Pediatric Cardiology, 2009

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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."