Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.S357L
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HAP1

NM_177977.3:p.S357L

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1

Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease.

Metzger S et al.

Human Molecular Genetics, 2008

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