Varaico: Literature-Extracted Genetic Variants

Gene:BHLHA9
Variant:p.E74delins
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BHLHA9

NM_001164405.2:p.E74delins

Associated Papers

Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly.

Sedighzadeh SS et al.

Congenital Anomalies, 2021

A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly.

Khan F et al.

European Journal of Medical Genetics, 2019

A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction.

Ullah A et al.

European Journal of Medical Genetics, 2019

Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders.

Phadke SR et al.

American Journal of Medical Genetics. Part A, 2016

A review of skeletal dysplasia research in India.

Uttarilli A et al.

Journal of Postgraduate Medicine, 0

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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."