Varaico: Literature-Extracted Genetic Variants

Gene:RPS6KA6
Variant:p.D692N
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RPS6KA6

NM_014496.5:p.D692N

Associated Papers

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s007.pdf

Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).

Kantojärvi K et al.

Autism Research : Official Journal of the International Society for Autism Research, 2011

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