Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.A86T
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SPECC1L

NM_015330.6:p.A86T

Associated Papers

SPECC1L: a cytoskeletal protein that regulates embryonic tissue dynamics.

Saadi I et al.

Biochemical Society Transactions, 2023

SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.

Migliore C et al.

Genes, 2022

TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.

da Silva EM et al.

Npj Breast Cancer, 2021

33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.pdf

SPECC1L regulates palate development downstream of IRF6.

Hall EG et al.

Human Molecular Genetics, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."