Varaico: Literature-Extracted Genetic Variants

Gene:NBEAL2
Variant:p.T1786S
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NBEAL2

NM_015175.3:p.T1786S

Associated Papers

Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report.

Song C et al.

Ophthalmic Genetics, 2025

39544142 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.

Sun Y et al.

Frontiers in Genetics, 2019

31572438 (PubMed )
Supplement: Table_1.xlsx › Sheet1
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