Varaico: Literature-Extracted Genetic Variants

Gene:CNTN6
Variant:p.G310S
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CNTN6

NM_001289080.2:p.G310S

Associated Papers

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.

Kim A et al.

Brain : a Journal of Neurology, 2019

30508070 (PubMed )
Supplement: awy290_supplementary_table_s1.pdf

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.

Mercati O et al.

Molecular Psychiatry, 2017

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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."