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A novel homozygous frameshift variant in SPTBN4 causes axonal neuropathy with intellectual disability in a consanguineous family by Rabab Ibrahim, Ghazala Zafar, Shafaq Ramzan, Hijab Zahra, Asmat Ali, Shahnaz Ibrahim, Mathias Toft, Zafar Iqbal, Ambrin Fatima
Published 2024-01-01Get full text
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