先天性无痛无汗症家系的致病变异分析及产前基因诊断.

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Title: 先天性无痛无汗症家系的致病变异分析及产前基因诊断.
Alternate Title: Analysis of pathogenic variants and prenatal genetic diagnosis in families with congenital insensitivity to pain with anhidrosis.
Authors: 陈 馨1, 李 双1,2, 蒋宇林1, 任秀智3, 赵秀丽1,2,3 zhaoxiuli@pumch.cn
Source: Basic & Clinical Medicine. Dec2025, Vol. 45 Issue 12, p1619-1625. 7p.
Database: Academic Search Ultimate
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  Data: 先天性无痛无汗症家系的致病变异分析及产前基因诊断.
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  Data: Analysis of pathogenic variants and prenatal genetic diagnosis in families with congenital insensitivity to pain with anhidrosis.
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  Data: <searchLink fieldCode="AR" term="%22陈+馨%22">陈 馨</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22李+双%22">李 双</searchLink><relatesTo>1,2</relatesTo><br /><searchLink fieldCode="AR" term="%22蒋宇林%22">蒋宇林</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22任秀智%22">任秀智</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22赵秀丽%22">赵秀丽</searchLink><relatesTo>1,2,3</relatesTo><i> zhaoxiuli@pumch.cn</i>
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  Data: <searchLink fieldCode="JN" term="%22Basic+%26+Clinical+Medicine%22">Basic & Clinical Medicine</searchLink>. Dec2025, Vol. 45 Issue 12, p1619-1625. 7p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=190268568
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      – Type: doi
        Value: 10.16352/j.issn.1001-6325.2025.12.1619
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      – Code: chi
        Text: Chinese
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      – TitleFull: 先天性无痛无汗症家系的致病变异分析及产前基因诊断.
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            NameFull: 陈 馨
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            NameFull: 李 双
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            NameFull: 蒋宇林
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            NameFull: 任秀智
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            NameFull: 赵秀丽
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            – D: 01
              M: 12
              Text: Dec2025
              Type: published
              Y: 2025
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              Value: 45
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