In the present study, whole exome sequencing (WES) was performed on a four-generation Chinese pedigree with bilateral non-syndromic polydactyly for identifying disease-causing mutation(s). A pathogeni

NIAID Data Ecosystem40

Additional file 2 of Unraveling the molecular landscape of congenital pseudoarthrosis of the tibia: insights from a comprehensive analysis of 159 probands

遗传病致病基因

骨骼发育异常遗传学

Supplementary material 2: Supplementary Table 2. The identified 63 rare LoF or missense variant in 55 CPT cases in this study.

DataCite Commons2025-06-04 更新100

Whole-exome data from a family with intellectual disability

遗传病致病基因

家系分析

The data includes the data of 2 patients and 1 normal control

NIAID Data Ecosystem70

Family sequencing of Mal de Melada

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