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[HTML][HTML] A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome

Y Shen, C Lu, T Cheng, Z Cao, C Chen, X Ma… - BMC Medical …, 2023 - Springer
Background KIAA0586, also known as Talpid3, plays critical roles in primary cilia formation
and hedgehog signaling in humans. Variants in KIAA0586 could cause some different …
被引用次数：4 相关文章
[HTML] nih.gov

[HTML][HTML] A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome

Y Shen, C Lu, T Cheng, Z Cao, C Chen… - BMC Medical …, 2023 - ncbi.nlm.nih.gov
Background KIAA0586, also known as Talpid3, plays critical roles in primary cilia formation
and hedgehog signaling in humans. Variants in KIAA0586 could cause some different …

A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome.

Y Shen, C Lu, T Cheng, Z Cao, C Chen, X Ma… - BMC Medical …, 2023 - go.gale.com
Background KIAA0586, also known as Talpid3, plays critical roles in primary cilia formation
and hedgehog signaling in humans. Variants in KIAA0586 could cause some different …

A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome

Y Shen, C Lu, T Cheng, Z Cao… - BMC medical …, 2023 - pubmed.ncbi.nlm.nih.gov
Background KIAA0586, also known as Talpid3, plays critical roles in primary cilia formation
and hedgehog signaling in humans. Variants in KIAA0586 could cause some different …

A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome.

Y Shen, C Lu, T Cheng, Z Cao, C Chen, X Ma… - BMC Medical …, 2023 - europepmc.org
KIAA0586, also known as Talpid3, plays critical roles in primary cilia formation and
hedgehog signaling in humans. Variants in KIAA0586 could cause some different …

A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome.

Y Shen, C Lu, T Cheng, Z Cao, C Chen… - BMC Medical …, 2023 - search.ebscohost.com
Background: KIAA0586, also known as Talpid3, plays critical roles in primary cilia formation
and hedgehog signaling in humans. Variants in KIAA0586 could cause some different …
[HTML] biomedcentral.com

[HTML][HTML] A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome

Y Shen, C Lu, T Cheng, Z Cao… - BMC Medical …, 2023 - bmcmedgenomics.biomedcentral …
KIAA0586, also known as Talpid3, plays critical roles in primary cilia formation and
hedgehog signaling in humans. Variants in KIAA0586 could cause some different …

A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome

Y Shen, C Lu, T Cheng, Z Cao, C Chen, X Ma, H Gao… - 2022 - researchsquare.com
Background: KIAA0586, also known as Talplid3, plays critical roles in primary cilia formation
and hedgehog signaling in humans. Variants in KIAA0586 could cause some different …
[PDF] biomedcentral.com

[PDF][PDF] A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome

Y Shen, C Lu, T Cheng, Z Cao, C Chen, X Ma… - 2023 - bmcmedgenomics.biomedcentral …
Background KIAA0586, also known as Talpid3, plays critical roles in primary cilia formation
and hedgehog signaling in humans. Variants in KIAA0586 could cause some different …

A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome

Y Shen, C Lu, T Cheng, Z Cao, C Chen, X Ma, H Gao… - 2022 - europepmc.org
Background: KIAA0586, also known as Talplid3, plays critical roles in primary cilia formation
and hedgehog signaling in humans. Variants in KIAA0586 could cause some different …