Varaico: Literature-Extracted Genetic Variants

Gene:RNPC3
Variant:p.R120insFs
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RNPC3

NM_017619.4:p.R120insFs

Associated Papers

Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia.

Olney NT et al.

Acta Neuropathologica, 2017

28828560 (PubMed )
Supplement: 401_2017_1764_MOESM1_ESM.pdf

Use of whole exome sequencing for identification of genetic variants related to Growth Hormone Deficiency and Short Stature: A Family-Based Study.

Alharazy S et al.

Pakistan Journal of Medical Sciences, 0

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