The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.
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A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1).A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2).Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities.Of dogs and men.
P2860
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年學術文章
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2016年學術文章
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name
The novel homozygous KCNJ10 c. ...... ST homologue in Malinois dogs.
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The novel homozygous KCNJ10 c.986T>C
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type
label
The novel homozygous KCNJ10 c. ...... ST homologue in Malinois dogs.
@en
The novel homozygous KCNJ10 c.986T>C
@nl
prefLabel
The novel homozygous KCNJ10 c. ...... ST homologue in Malinois dogs.
@en
The novel homozygous KCNJ10 c.986T>C
@nl
P2093
P2860
P356
P1476
The novel homozygous KCNJ10 c. ...... AST homologue in Malinois dogs
@en
P2093
Leslie Bosseler
Luc J Peelman
Luc Van Ham
Mario Van Poucke
Sofie F M Bhatti
P2860
P2888
P304
P356
10.1038/EJHG.2016.157
P577
2016-12-14T00:00:00Z