Two rare variants reveal the significance of Grainyhead-like 3 Arginine 391 underlying non-syndromic cleft palate only.

Oral diseases(2022)

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摘要
In aggregate, this study identified and characterized a rare GRHL3 variant in NSCPO, revealing the critical role of Arginine 391 in GRHL3. Our findings will help facilitate understanding and genetic counseling of NSCPO.
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关键词
Grainyhead-like 3,non-syndromic cleft palate only,orofacial clefts,rare variants,whole-exome sequencing
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