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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GUCA1A

Variant:p.V101_D102del1

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GUCA1A

NM_001384910.1:p.V101_D102del1

hg38:chr6:42178378 TGTA>T

Associated Papers

Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.

Manes G et al.

Molecular Vision, 2017

28442884 (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."