Varaico: Literature-Extracted Genetic Variants

Gene:CREB3L1
Variant:p.A369T
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CREB3L1

NM_052854.4:p.A369T

Associated Papers

TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis.

Tung ML et al.

Genes, 2022

36140816 (PubMed )
Supplement: genes-13-01649-s001.zip › Supplementary_Table_S4_list_of_VUS_on_WGS_for_craniosynostosis.xlsx › VariantTable_27

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

Potjer TP et al.

International Journal of Cancer, 2019

30414346 (PubMed )
Supplement: IJC-144-2453-s001.doc
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