Varaico: Literature-Extracted Genetic Variants

Gene:ANKEF1
Variant:p.S355G
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ANKEF1

NM_022096.6:p.S355G

Associated Papers

Rare dentin defects: Understanding the pathophysiological mechanisms of COLXVA1 mutations.

Bugueno IM et al.

Genes & Diseases, 2024

38721411 (PubMed )
Supplement: mmc2.pdf

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

Zlotina A et al.

Bmc Medical Genomics, 2020

33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1
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