Varaico: Literature-Extracted Genetic Variants

Gene:RABL6
Variant:p.P609L
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RABL6

NM_024718.5:p.P609L

Associated Papers

A Novel CD3G Mutation in a Taiwanese Patient With Normal T Regulatory Function Presenting With the CVID Phenotype Free of Autoimmunity-Analysis of all Genotypes and Phenotypes.

Lee WI et al.

Frontiers in Immunology, 2019

31921117 (PubMed )
Supplement: Data_Sheet_1.pdf

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

Redin C et al.

Journal of Medical Genetics, 2014

25167861 (PubMed )
Supplement: jmedgenet-2014-102554-s2.pdf
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