A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9

Mangalore S. Shravya; Mary Mathew; Akhila Vasudeva; Katta M. Girisha; Shalini S. Nayak

doi:10.1111/cge.14237

A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9

Mangalore S. Shravya, Mary Mathew, Akhila Vasudeva, Katta M. Girisha, Shalini S. Nayak^*

^*Corresponding author for this work

Research output: Contribution to journal › Letter › peer-review

1 Citation (Scopus)

Original language	English
Pages (from-to)	127-129
Number of pages	3
Journal	Clinical Genetics
Volume	103
Issue number	1
DOIs	https://doi.org/10.1111/cge.14237
Publication status	Published - Jan 2023
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1111/cge.14237

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@article{7e72197e2daa4f9cbcb27369c29967e8,

title = "A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9",

author = "Shravya, {Mangalore S.} and Mary Mathew and Akhila Vasudeva and Girisha, {Katta M.} and Nayak, {Shalini S.}",

note = "Funding Information: This work was funded by the DBT/Wellcome Trust India Alliance (IA/CRC/20/1/600002). ",

year = "2023",

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doi = "10.1111/cge.14237",

language = "English",

volume = "103",

pages = "127--129",

journal = "Clinical Genetics",

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T1 - A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9

AU - Shravya, Mangalore S.

AU - Mathew, Mary

AU - Vasudeva, Akhila

AU - Girisha, Katta M.

AU - Nayak, Shalini S.

N1 - Funding Information: This work was funded by the DBT/Wellcome Trust India Alliance (IA/CRC/20/1/600002).

PY - 2023/1

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U2 - 10.1111/cge.14237

DO - 10.1111/cge.14237

M3 - Letter

C2 - 36210633

AN - SCOPUS:85139463242

SN - 0009-9163

VL - 103

SP - 127

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JO - Clinical Genetics

JF - Clinical Genetics

IS - 1

ER -

A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9

ASJC Scopus subject areas

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