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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
NID1
Variant:
p.A1201T
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NID1
NM_002508.3:p.A1201T
hg38:chr1:235979016 C>T
Frequencies & domains
Associated Papers
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.
Suzuki O et al.
Molecular Vision,
2009
19390655 (PubMed
)
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