Varaico: Literature-Extracted Genetic Variants

Gene:ALMS1
Variant:p.S697*
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ALMS1

NM_015120.4:p.S697*

Associated Papers

Genetic burden in neonatal and pediatric-onset pulmonary hypertension: A single-center retrospective study using exome sequencing in a Chinese population.

Chen C et al.

Pediatrics and Neonatology, 2025

Alström syndrome: A rare cause of dilated cardiomyopathy in five Chinese children.

Qi Y et al.

Gene, 2025

Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients.

Zhang Q et al.

Frontiers in Genetics, 2022

A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome.

Shi J et al.

Frontiers in Genetics, 2022

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