PHOX2B variants identified in HSCR patients.
收藏Figshare2015-12-02 更新2026-04-29 收录
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NA, not available; S-HSCR, short-segment; L-HSCR, long-segment.aThe term “familial” is applied when more than one family member has Hirschsprung disease. Otherwise, when there is no family history, the cases are considered sporadic. The only pathogenic variant is shaded in grey while the remaining novel variations are considered as non-pathogenic.
创建时间：
2015-12-02
