Varaico: Literature-Extracted Genetic Variants

Gene:EFNA5
Variant:p.A223V
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EFNA5

NM_001962.3:p.A223V

Associated Papers

Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.

Patil VA et al.

Clinical Endocrinology, 2022

36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Song J et al.

Molecular Brain, 2019

31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious

Association of OGG1 and MTHFR polymorphisms with age-related cataract: A systematic review and meta-analysis.

Wu X et al.

Plos One, 2017

Mutational screening of EFNA5 in Chinese age-related cataract patients.

Lin Q et al.

Ophthalmic Research, 2014

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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."