Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC1
Variant:p.V121delFs
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TRAPPC1

NM_021210.5:p.V121delFs

Associated Papers

A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1-Associated Neurodevelopmental Syndrome.

Zykaj E et al.

Cells, 2024

Exome sequencing in families with chronic central serous chorioretinopathy.

Schellevis RL et al.

Molecular Genetics & Genomic Medicine, 2019

30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_14
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