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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AHDC1

Variant:p.A802_S803del2

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AHDC1

NM_001371928.1:p.A802_S803del2

hg38:chr1:27549706 TGGAGGC>T

Associated Papers

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.

Arai-Ichinoi N et al.

Human Genetics, 2016

26597493 (PubMed )

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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."