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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
IGSF1
Variant:
p.A713_K721del0
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IGSF1
NM_001170961.2:p.A713_K721del0
hg38:chrX:131278026 TCCTTATACAGAGCAAACCCCATGCCTG>T
Frequencies & domains
Associated Papers
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Sun Y et al.
Nature Genetics,
2012
23143598 (PubMed
)
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