Varaico: Literature-Extracted Genetic Variants

Gene:ALDH6A1
Variant:p.Q468*
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ALDH6A1

NM_005589.4:p.Q468*

Associated Papers

Genomic and phenotypic delineation of congenital microcephaly.

Shaheen R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30214071 (PubMed )
Supplement: NIHMS1061370-supplement-1061370_Sup_MOESM2.xlsx › Sheet1

Genetic investigation of 93 families with microphthalmia or posterior microphthalmos.

Patel N et al.

Clinical Genetics, 2018

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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."