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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALMS1

Variant:p.M981delFs

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ALMS1

NM_001378454.1:p.M981delFs

hg38:chr2:73449469 TG>T

Associated Papers

Leber congenital amaurosis: genes, proteins and disease mechanisms.

den Hollander AI et al.

Progress in Retinal and Eye Research, 2008

18632300 (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."