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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSPG2

Variant:p.R187*

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HSPG2

NM_005529.7:p.R187*

hg38:chr1:21889996 G>A

Associated Papers

Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.

Farshadyeganeh P et al.

Journal of Human Genetics, 2024

38424183 (PubMed )

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