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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHAF1A

Variant:p.Q150_Q157del0

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CHAF1A

NM_005483.3:p.Q150_Q157del0

hg38:chr19:4409246 CCAGCGAGAAGACACTGGGGATCAG>C

Associated Papers

Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.

Alkhzouz C et al.

Jimd Reports, 2017

27351199 (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."