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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GMPPA

Variant:p.R264*

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GMPPA

NM_013335.4:p.R264*

hg38:chr2:219505492 C>T

Associated Papers

AAMR syndrome in a 22-month-old and literature review.

Oet MA et al.

Ophthalmic Genetics, 2022

35607266 (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."