Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes

Research output: Contribution to journalComment/debateResearchpeer-review

Standard

Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes. / Waheed, Nadia; Waris, Rehmana; Naseer, Maryam; Razzaq, Ayesha; Suleman, Sufyan; Ullah, Asmat.

In: Clinical Genetics, Vol. 105, No. 1, 2024, p. 106-108.

Research output: Contribution to journalComment/debateResearchpeer-review

Harvard

Waheed, N, Waris, R, Naseer, M, Razzaq, A, Suleman, S & Ullah, A 2024, 'Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes', Clinical Genetics, vol. 105, no. 1, pp. 106-108. https://doi.org/10.1111/cge.14444

APA

Waheed, N., Waris, R., Naseer, M., Razzaq, A., Suleman, S., & Ullah, A. (2024). Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes. Clinical Genetics, 105(1), 106-108. https://doi.org/10.1111/cge.14444

Vancouver

Waheed N, Waris R, Naseer M, Razzaq A, Suleman S, Ullah A. Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes. Clinical Genetics. 2024;105(1):106-108. https://doi.org/10.1111/cge.14444

Author

Waheed, Nadia ; Waris, Rehmana ; Naseer, Maryam ; Razzaq, Ayesha ; Suleman, Sufyan ; Ullah, Asmat. / Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes. In: Clinical Genetics. 2024 ; Vol. 105, No. 1. pp. 106-108.

Bibtex

@article{d7bc44492d694cd89eb2de7ed02ac4ca,
title = "Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes",
author = "Nadia Waheed and Rehmana Waris and Maryam Naseer and Ayesha Razzaq and Sufyan Suleman and Asmat Ullah",
year = "2024",
doi = "10.1111/cge.14444",
language = "English",
volume = "105",
pages = "106--108",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "1",

}

RIS

TY - JOUR

T1 - Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes

AU - Waheed, Nadia

AU - Waris, Rehmana

AU - Naseer, Maryam

AU - Razzaq, Ayesha

AU - Suleman, Sufyan

AU - Ullah, Asmat

PY - 2024

Y1 - 2024

U2 - 10.1111/cge.14444

DO - 10.1111/cge.14444

M3 - Comment/debate

C2 - 37866826

AN - SCOPUS:85174598658

VL - 105

SP - 106

EP - 108

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 1

ER -

ID: 371655733