Varaico: Literature-Extracted Genetic Variants

Gene:TTLL4
Variant:p.R525C
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TTLL4

NM_014640.5:p.R525C

Associated Papers

Assessing the impact of sequencing platforms and analytical pipelines on whole-exome sequencing.

Sun Y et al.

Frontiers in Genetics, 2024

38818042 (PubMed )
Supplement: Table3.XLSX › Sheet1

Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy.

Hayashi T et al.

Human Molecular Genetics, 2023

36645181 (PubMed )
Supplement: supplementary_materials_r1_ddad008.zip › Supplementary_Materials_R1_ddad008.pdf
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