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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
HGSNAT
Variant:
p.H373Y
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HGSNAT
NM_152419.3:p.H373Y
hg38:chr8:43182249 C>T
Frequencies & domains
Associated Papers
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
Van Cauwenbergh C et al.
Plos One,
2017
28076437 (PubMed
)
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