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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRY

Variant:p.D15ins2

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SRY

NM_003140.3:p.D15ins2

hg38:chrY:2787560 T>TAGTCCA

Associated Papers

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.

Pauli S et al.

Clinical Genetics, 2012

21554267 (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."