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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMIM10L2A

Variant:p.Q74P

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SMIM10L2A

NM_203306.3:p.Q74P

hg38:chrX:135422352 A>C

Associated Papers

Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases.

Lipka J et al.

Biochemical Society Transactions, 2013

24256262 (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."