Varaico: Literature-Extracted Genetic Variants

Gene:B9D2
Variant:p.R75Q
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B9D2

NM_030578.4:p.R75Q

Associated Papers

A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.

Lin X et al.

Frontiers in Pediatrics, 2024

38832002 (PubMed )
Supplement: Table1.xlsx › filter_variants

Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.

Xing D et al.

Bmc Ophthalmology, 2022

35870892 (PubMed )
Supplement: 12886_2022_2532_MOESM2_ESM.xlsx › SelectedGene
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