Varaico: Literature-Extracted Genetic Variants

Gene:TCTN3
Variant:p.Q293*
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TCTN3

NM_015631.6:p.Q293*

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review.

Huljev Frković S et al.

American Journal of Medical Genetics. Part A, 2022

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