Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1
Variant:p.R152W
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HYAL1

NM_033159.4:p.R152W

Associated Papers

Epidemiology of Mucopolysaccharidoses Update.

Çelik B et al.

Diagnostics (basel, Switzerland), 2021

Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes.

Ganesh S et al.

Psychiatry and Clinical Neurosciences, 2019

30367527 (PubMed )
Supplement: PCN-73-11-s002.xlsx › Table_3

Epidemiology of mucopolysaccharidoses.

Khan SA et al.

Molecular Genetics and Metabolism, 2017

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