Varaico: Literature-Extracted Genetic Variants

Gene:ALDH1A3
Variant:p.A145V
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ALDH1A3

NM_000693.4:p.A145V

Associated Papers

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.

Kesim Y et al.

European Journal of Human Genetics : Ejhg, 2023

Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.

Kesim Y et al.

European Journal of Human Genetics : Ejhg, 2023

Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.

Lin S et al.

Bmc Medical Genetics, 2018

Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.

Patel N et al.

Clinical Genetics, 2018

A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.

Roos L et al.

Clinical Genetics, 2014

Mutations in ALDH1A3 cause microphthalmia.

Aldahmesh MA et al.

Clinical Genetics, 2013

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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."