Varaico: Literature-Extracted Genetic Variants

Gene:AP4E1
Variant:p.R719G
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AP4E1

NM_001252127.2:p.R719G

Associated Papers

A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.

Sun Y et al.

Frontiers in Genetics, 2019

31572438 (PubMed )
Supplement: Table_1.xlsx › Sheet1

A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.

Chen DY et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

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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."