Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.A486T
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SPTBN2

NM_006946.4:p.A486T

Associated Papers

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.

Mohren L et al.

Nature Communications, 2024

39227614 (PubMed )
Supplement: 41467_2024_52148_MOESM1_ESM.pdf

Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy.

Wieben ED et al.

Investigative Ophthalmology & Visual Science, 2019

31469403 (PubMed )
Supplement: iovs-60-10-11_s03.pdf

A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Melloni GEM et al.

Breast Cancer Research : Bcr, 2017

28569218 (PubMed )
Supplement: 13058_2017_854_MOESM3_ESM.xlsx › Table_S7
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