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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ANO5

Variant:p.Q511_I512ins0

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ANO5

NM_213599.3:p.Q511_I512ins0

hg38:chr11:22259643 A>AGAT

Associated Papers

Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.

Cuvelier V et al.

Prenatal Diagnosis, 2024

38922934 (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."