Varaico: Literature-Extracted Genetic Variants

Gene:SFTPB
Variant:p.Q233*
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SFTPB

NM_000542.5:p.Q233*

Associated Papers

ABCA3 c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: A Family Case Study and Literature Review.

Ognean ML et al.

Biomedicines, 2024

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