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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SOX30

Variant:p.V317M

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SOX30

NM_178424.2:p.V317M

hg38:chr5:157651130 C>T

Associated Papers

Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech.

Ormieres C et al.

Molecular Autism, 2025

39948625 (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."