Importance: Anorectal malformations (ARM) are individually common but Congenital Pouch Colon (CPC), a rare anorectal anomaly causes a dilated pouch in the genitourinary tract.Objective: In this work,

NIAID Data Ecosystem30

REL-2014-11_4 - samples

罕见病遗传学

基因型分析

HipSci - Bardet-Biedl Syndrome - Genotyping Array - November 2014EGA dataset EGAD00010000777

NIAID Data Ecosystem40

A highly heterogeneous mutational pattern in POEMS syndrome_Part 1

罕见病遗传学

浆细胞疾病基因组学

POEMS syndrome is a rare plasma cell dyscrasia. Little is known about its pathogenesis and genetic features. We analyzed the mutational features of purified bone marrow plasma cells from forty-two pat

NIAID Data Ecosystem40

uk10k_rare_coloboma_rel_2013_04_20-sc-20130522 - samples

资源简介：

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