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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STAMBP

Variant:p.K126fs

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STAMBP

NM_213622.4:p.K126fs

hg38:chr2:73847387 AAG>N

Associated Papers

Expanding the Phenotype of STAMBP-Related Microcephaly-Capillary Malformation Syndrome.

Gowda VK et al.

American Journal of Medical Genetics. Part A, 2026

41603106 (PubMed )

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