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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKDCC

Variant:p.Q213_L214Splc

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PKDCC

NM_138370.3:p.Q213_L214Splc

hg38:chr2:42053237 A>T

Associated Papers

Rhizomelic short stature with dysmorphism in two siblings due to PKDCC gene pathogenic variants.

Guddeti A et al.

Jcem Case Reports, 2026

41726362 (PubMed )

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