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MYO5B Novel Homozygous Variant c.2090+3A>T Causes Intron Retention and is Related To Severe Cholestasis and Intractable Diarrhea

2021-08-12

Abstract excerpt

<title>Abstract</title> <p>Background Myosin Vb (<italic>MYO5B</italic>) plays an important role in protein trafficking and recycling. Biallelic mutated <italic>MYO5B</italic> has been found related to microvillus inclusion disease (MVID) or predominant cholestatic liver disease or mixed the two diseases. This study aims to clarify the splicing alteration and associated clinical or pathological features of a new...

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Literature Corpus work
aed13290-3052-5983-b75a-5a2cdf9a80ab
DOI
10.21203/rs.3.rs-764232/v1
Open publication

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MYO5B Novel Homozygous Variant c.2090+3A&gt;T Causes Intron Retention and is Related To Severe Cholestasis and Intractable DiarrheaDOI 10.21203/rs.3.rs-764232/v1
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