Varaico: Literature-Extracted Genetic Variants

Gene:AP4E1
Variant:p.I391F
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AP4E1

NM_001252127.2:p.I391F

Associated Papers

Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.

Shen Y et al.

Nature Communications, 2019

30683861 (PubMed )
Supplement: 41467_2018_8182_MOESM10_ESM.xls › PA

Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.

Park HJ et al.

Journal of Clinical Neurology (seoul, Korea), 2015

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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."