Varaico: Literature-Extracted Genetic Variants

Gene:BPTF
Variant:p.A1924T
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BPTF

NM_004459.7:p.A1924T

Associated Papers

Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency.

Ferretti A et al.

Pediatric Neurology, 2025

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Stankiewicz P et al.

American Journal of Human Genetics, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."