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ECEL1 related distal arthrogryposis 5D in an Indian cohort—Report of recognizable musculoskeletal phenotype and a possible founder variant.

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Title: ECEL1 related distal arthrogryposis 5D in an Indian cohort—Report of recognizable musculoskeletal phenotype and a possible founder variant.
Authors: Endrakanti, Mounika1, Sharma, Jyoti1, Ethayathulla, Abdul S.2, Kaur, Punit2, Khan, Shah Alam3, Kabra, Madhulika1, Gupta, Neerja1, neerja17@gmail.com
Source: American Journal of Medical Genetics. Part A; Aug2024, Vol. 194 Issue 8, p1-9, 9p
Database: Applied Science & Technology Source
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DbLabel: Applied Science & Technology Source
An: 178279334
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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  Data: ECEL1 related distal arthrogryposis 5D in an Indian cohort—Report of recognizable musculoskeletal phenotype and a possible founder variant.
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      – Type: doi
        Value: 10.1002/ajmg.a.63592
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      – Code: eng
        Text: English
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        PageCount: 9
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      – TitleFull: ECEL1 related distal arthrogryposis 5D in an Indian cohort—Report of recognizable musculoskeletal phenotype and a possible founder variant.
        Type: main
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      – PersonEntity:
          Name:
            NameFull: Endrakanti, Mounika
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            NameFull: Sharma, Jyoti
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            NameFull: Ethayathulla, Abdul S.
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            NameFull: Kaur, Punit
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            NameFull: Khan, Shah Alam
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            NameFull: Kabra, Madhulika
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            NameFull: Gupta, Neerja
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          Dates:
            – D: 01
              M: 08
              Text: Aug2024
              Type: published
              Y: 2024
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              Value: 194
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            – TitleFull: American Journal of Medical Genetics. Part A
              Type: main
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